Varaico: Literature-Extracted Genetic Variants

Gene:LMOD3
Variant:p.L550F
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LMOD3

NM_198271.5:p.L550F

Associated Papers

Autophagy increase in Merosin-Deficient Congenital Muscular Dystrophy type 1A.

Mastrapasqua M et al.

European Journal of Translational Myology, 2023

Compound Heterozygosity for Novel Truncating Variants in the LMOD3 Gene as the Cause of Polyhydramnios in Two Successive Fetuses.

Wang Y et al.

Frontiers in Genetics, 2019

Evidence of mild founder LMOD3 mutations causing nemaline myopathy 10 in Germany and Austria.

Schatz UA et al.

Neurology, 2018

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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."