Varaico: Literature-Extracted Genetic Variants

Gene:MEGF10
Variant:p.W520fs
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MEGF10

NM_001256545.2:p.W520fs

Associated Papers

Phenotypic Variability of MEGF10 Variants Causing Congenital Myopathy: Report of Two Unrelated Patients from a Highly Consanguineous Population.

AlMuhaizea M et al.

Genes, 2021

Chromosomal microarray in a highly consanguineous population: diagnostic yield, utility of regions of homozygosity, and novel mutations.

Alabdullatif MA et al.

Clinical Genetics, 2017

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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."