Varaico: Literature-Extracted Genetic Variants

Gene:LAMA2
Variant:p.W2316*
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LAMA2

NM_000426.4:p.W2316*

Associated Papers

Identification of a novel LAMA2 c.2217G > A, p.(Trp739*) mutation in a Moroccan patient with congenital muscular dystrophy: a case report.

El Kadiri Y et al.

Bmc Medical Genomics, 2021

Genetics of laminin alpha 2 chain (or merosin) deficient congenital muscular dystrophy: from identification of mutations to prenatal diagnosis.

Guicheney P et al.

Neuromuscular Disorders : Nmd, 1997

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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."