Varaico: Literature-Extracted Genetic Variants

Gene:MYBPC1
Variant:p.K829_Y831delFs
Back to variants list

MYBPC1

NM_002465.4:p.K829_Y831delFs

Associated Papers

Heterogenic Genetic Background of Distal Arthrogryposis-Review of the Literature and Case Report.

Illés A et al.

Children (basel, Switzerland), 2024

Compound heterozygous variants in MYBPC1 lead to severe distal arthrogryposis type-1 manifestations.

Iyer A et al.

Gene, 2024

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."