Varaico: Literature-Extracted Genetic Variants

Gene:MFAP1
Variant:p.R126H
Back to variants list

MFAP1

NM_005926.3:p.R126H

Associated Papers

A comprehensive study of skeletal muscle imaging in FHL1-related reducing body myopathy.

Mohassel P et al.

Annals of Clinical and Translational Neurology, 2023

37483011 (PubMed )
Supplement: ACN3-10-1442-s001.docx

L-Type Calcium Channel: Predicting Pathogenic/Likely Pathogenic Status for Variants of Uncertain Clinical Significance.

Tarnovskaya SI et al.

Membranes, 2021

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."