Associated Papers
Biallelic variants in SLC4A10 encoding a sodium-dependent bicarbonate transporter lead to a neurodevelopmental disorder.
Maroofian R et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024
38054405 (PubMed )
Supplement: mmc3.xlsx › Sheet1
Frequency of genomic secondary findings among 21,915 eMERGE network participants.
Unknown Author
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
32546831 (PubMed )
Supplement: NIHMS1615423-supplement-Supplementary_Table_2.xlsx › Sheet1
Low prevalence of mutations in known loci for autosomal dominant hypercholesterolemia in a multiethnic patient cohort.
Ahmad Z et al.
Circulation. Cardiovascular Genetics, 2012
Molecular spectrum of autosomal dominant hypercholesterolemia in France.
Marduel M et al.
Human Mutation, 2010
Fibrinogen gene mutations accounting for congenital afibrinogenemia.
Neerman-Arbez M
Annals of the New York Academy of Sciences, 2001
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