Varaico: Literature-Extracted Genetic Variants

Gene:KGD4
Variant:p.R99P
Back to variants list

KGD4

NM_033281.6:p.R99P

Associated Papers

Case Report: Biallelic variants in MRPS36, encoding a component of the 2-oxoglutarate dehydrogenase complex, cause leigh syndrome.

Jiang H et al.

Frontiers in Pediatrics, 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."