Varaico: Literature-Extracted Genetic Variants

Gene:CLCN7
Variant:p.S204R
Back to variants list

CLCN7

NM_001287.6:p.S204R

Associated Papers

Whole exome sequencing identified two novel homozygous missense variants in the same codon of CLCN7 underlying autosomal recessive infantile malignant osteopetrosis in a Pakistani family.

Khan MA et al.

Molecular Biology Reports, 2018

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."