Varaico: Literature-Extracted Genetic Variants

Gene:LAMA2
Variant:p.S659*
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LAMA2

NM_000426.4:p.S659*

Associated Papers

Natural history and genetic study of LAMA2-related muscular dystrophy in a large Chinese cohort.

Tan D et al.

Orphanet Journal of Rare Diseases, 2021

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

The combination of whole-exome sequencing and copy number variation sequencing enables the diagnosis of rare neurological disorders.

Jiao Q et al.

Clinical Genetics, 2019

Genotype/phenotype analysis in Chinese laminin-α2 deficient congenital muscular dystrophy patients.

Xiong H et al.

Clinical Genetics, 2015

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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."