Varaico: Literature-Extracted Genetic Variants

Gene:MYOF
Variant:p.R1648C
Back to variants list

MYOF

NM_013451.4:p.R1648C

Associated Papers

Pathogenic variants in SLF2 and SMC5 cause segmented chromosomes and mosaic variegated hyperploidy.

Grange LJ et al.

Nature Communications, 2022

36333305 (PubMed )
Supplement: 41467_2022_34349_MOESM5_ESM.xlsx › Sheet1
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."