Varaico: Literature-Extracted Genetic Variants

Gene:SLC4A10
Variant:p.R622W
Back to variants list

SLC4A10

NM_001178015.2:p.R622W

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."