Varaico: Literature-Extracted Genetic Variants

Gene:TSC22D2
Variant:p.R40C
Back to variants list

TSC22D2

NM_001303264.2:p.R40C

Associated Papers

A novel mutation of AFG3L2 might cause dominant optic atrophy in patients with mild intellectual disability.

Charif M et al.

Frontiers in Genetics, 2015

26539208 (PubMed )
Supplement: Table_1.XLSX › Feuil1
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."