Varaico: Literature-Extracted Genetic Variants

Gene:SLC4A7
Variant:p.D508N
Back to variants list

SLC4A7

NM_001321103.2:p.D508N

Associated Papers

An Isogenic Human Myoblast Cell Model for Cystinosis Myopathy Reveals Alteration of Key Myogenic Regulatory Proteins.

Medaer L et al.

Journal of Cachexia, Sarcopenia and Muscle, 2025

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."