Varaico: Literature-Extracted Genetic Variants

Gene:MAST1
Variant:p.R332C
Back to variants list

MAST1

NM_014975.3:p.R332C

Associated Papers

Genetic landscape of primary mitochondrial diseases in children and adults using molecular genetics and genomic investigations of mitochondrial and nuclear genome.

Ambrose A et al.

Orphanet Journal of Rare Diseases, 2024

39533303 (PubMed )
Supplement: 13023_2024_3437_MOESM9_ESM.xlsx › Nuclear
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."