Wang H, Huang W, Fei Y-J, Xia H, Yang-Feng TL, Leibach FH, et al. Human placental Na+-dependent multivitamin transporter. J Biol Chem. 1999;274:14875–83.
Article CAS PubMed Google Scholar
Baumgartner MR, Suormala T. Biotin-responsive Disorders. In: Inborn Metabolic Diseases. Springer Berlin Heidelberg. 2016. p. 375–83.
Byrne AB, Arts P, Polyak SW, Feng J, Schreiber AW, Kassahn KS, et al. Identification and targeted management of a neurodegenerative disorder caused by biallelic mutations in SLC5A6. NPJ Genom Med. 2019;14:28.
Hauth I, Waterham H, Wanders RJ, Van Der Crabben S, Van Karnebeek CD. A mild case of SMVT deficiency illustrating the importance of treatment response in variant classification. Mol Case Stud. 2022;8:a006185.
Holling T, Nampoothiri S, Tarhan B, Schneeberger PE, Vinayan KP, Yesodharan D, et al. Novel biallelic variants expand the SLC5A6-related phenotypic spectrum. Eur J Hum Genet. 2022;30:439–49.
Article CAS PubMed PubMed Central Google Scholar
Subramanian VS, Constantinescu AR, Benke PJ, Said HM. Mutations in SLC5A6 associated with brain, immune, bone, and intestinal dysfunction in a young child. Hum Genet. 2017;136:253–61.
Article CAS PubMed Google Scholar
Schwantje M, De Sain-Van Der Velden M, Jans J, Van Gassen K, Dorrepaal C, Koop K, et al. Genetic defect of the sodium‐dependent multivitamin transporter: a treatable disease, mimicking biotinidase deficiency. JIMD Rep. 2019;48:11–14.
Article PubMed PubMed Central Google Scholar
Kameyama S, Mizuguchi T, Fukuda H, Moey LH, Keng WT, Okamoto N, et al. Biallelic null variants in ZNF142 cause global developmental delay with familial epilepsy and dysmorphic features. J Hum Genet. 2022;67:169–73.
Article CAS PubMed Google Scholar
Wang K, Li M, Hakonarson H. ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res. 2010;38:e164.
Article PubMed PubMed Central Google Scholar
Ng PC. SIFT: predicting amino acid changes that affect protein function. Nucleic Acids Res. 2003;31:3812–14.
Article CAS PubMed PubMed Central Google Scholar
Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P, et al. A method and server for predicting damaging missense mutations. Nat Methods. 2010;7:248–9.
Article CAS PubMed PubMed Central Google Scholar
Steinhaus R, Proft S, Schuelke M, Cooper DN, Schwarz Jana M, Seelow D. MutationTaster2021. Nucleic Acids Res. 2021;49:W446–51.
Article CAS PubMed PubMed Central Google Scholar
Kircher M, Witten DM, Jain P, O’Roak BJ, Cooper GM, Shendure J. A general framework for estimating the relative pathogenicity of human genetic variants. Nat Genet. 2014;46:310–15.
Article CAS PubMed PubMed Central Google Scholar
Ioannidis NM, Rothstein JH, Pejaver V, Middha S, McDonnell SK, Baheti S, et al. REVEL: an ensemble method for predicting the pathogenicity of rare missense variants. Am J Hum Genet. 2016;99:877–85.
Article CAS PubMed PubMed Central Google Scholar
Capriotti E, Altman RB, Bromberg Y. Collective judgment predicts disease-associated single nucleotide variants. BMC Genom. 2013;14:S2.
Danzi MC, Dohrn MF, Fazal S, Beijer D, Rebelo AP, Cintra V, et al. Deep structured learning for variant prioritization in Mendelian diseases. Nat Commun. 2023;14:4167.
Article CAS PubMed PubMed Central Google Scholar
Cheng J, Novati G, Pan J, Bycroft C, Žemgulytė A, Applebaum T, et al. Accurate proteome-wide missense variant effect prediction with AlphaMissense. Science. 2023;381:eadg7492.
Article CAS PubMed Google Scholar
Thompson JD, Higgins DG, Gibson TJ. CLUSTAL W: improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice. Nucleic Acids Res. 1994;22:4673–80.
Article CAS PubMed PubMed Central Google Scholar
Jumper J, Evans R, Pritzel A, Green T, Figurnov M, Ronneberger O, et al. Highly accurate protein structure prediction with AlphaFold. Nature. 2021;596:583–89.
Article CAS PubMed PubMed Central Google Scholar
Guerois R, Nielsen JE, Serrano L. Predicting changes in the stability of proteins and protein complexes: a study of more than 1000 mutations. J Mol Biol. 2002;320:369–87.
Article CAS PubMed Google Scholar
Schymkowitz J, Borg J, Stricher F, Nys R, Rousseau F, Serrano L. The FoldX web server: an online force field. Nucleic Acids Res. 2005;33:W382–8.
Article CAS PubMed PubMed Central Google Scholar
Kondo S, Ueda R. Highly improved gene targeting by germline-specific Cas9 expression in drosophila. Genetics. 2013;195:715–21.
Article CAS PubMed PubMed Central Google Scholar
Karczewski KJ, Francioli LC, Tiao G, Cummings BB, Alföldi J, Wang Q, et al. The mutational constraint spectrum quantified from variation in 141,456 humans. Nature. 2020;581:434–43.
Article CAS PubMed PubMed Central Google Scholar
Tadaka S, Hishinuma E, Komaki S, Motoike IN, Kawashima J, Saigusa D, et al. jMorp updates in 2020: large enhancement of multi-omics data resources on the general Japanese population. Nucleic Acids Res. 2021;49:D536–D44.
Article CAS PubMed Google Scholar
Gerasimavicius L, Liu X, Marsh JA. Identification of pathogenic missense mutations using protein stability predictors. Sci Rep. 2020;10:15387.
Article CAS PubMed PubMed Central Google Scholar
Bromberg Y, Rost B. Correlating protein function and stability through the analysis of single amino acid substitutions. BMC Bioinforma. 2009;10:S8.
Institute of Medicine Standing Committee on the Scientific Evaluation of Dietary Reference I, its Panel on Folate OBV, Choline. The National Academies Collection: Reports funded by National Institutes of Health. In: Dietary Reference Intakes for Thiamin, Riboflavin, Niacin, Vitamin B(6), Folate, Vitamin B(12), Pantothenic Acid, Biotin, and Choline. Washington (DC): National Academies Press (US)Copyright © 1998, National Academy of Sciences.; 1998.
Tokutomi T, Fukushima A, Yamamoto K, Bansho Y, Hachiya T, Shimizu A. f-treeGC: a questionnaire-based family tree-creation software for genetic counseling and genome cohort studies. BMC Med Genet. 2017;18:71.
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