Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MYH7

Variant:p.L1467R

Back to variants list

MYH7

NM_000257.4:p.L1467R

hg38:chr14:23417272 A>C

Associated Papers

A Laing distal myopathy-associated proline substitution in the β-myosin rod perturbs myosin cross-bridging activity.

Buvoli M et al.

The Journal of Clinical Investigation, 2024

38690726 (PubMed )

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."