Varaico: Literature-Extracted Genetic Variants

Gene:LMOD3
Variant:p.K122delFs
Back to variants list

LMOD3

NM_198271.5:p.K122delFs

Associated Papers

A new homozygous missense variant in LMOD3 gene causing mild nemaline myopathy with prominent facial weakness.

Segarra-Casas A et al.

Neuromuscular Disorders : Nmd, 2023

Pediatric Nemaline Myopathy: A Systematic Review Using Individual Patient Data.

Christophers B et al.

Journal of Child Neurology, 2022

Association of fingerprint bodies with rods in a case with mutations in the LMOD3 gene.

Marguet F et al.

Neuromuscular Disorders : Nmd, 2020

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."