Varaico: Literature-Extracted Genetic Variants

Gene:LMOD3
Variant:p.R344W
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LMOD3

NM_198271.5:p.R344W

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

X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.

Khan MJ et al.

Scientific Reports, 2018

30389958 (PubMed )
Supplement: 41598_2018_34262_MOESM2_ESM.xlsx › 2._minor_allele_frequency_1
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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."