Varaico: Literature-Extracted Genetic Variants

Gene:LAMA2
Variant:p.A1842V
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LAMA2

NM_000426.4:p.A1842V

Associated Papers

Identification of LAMA2 compound heterozygous variants: a case report.

Ying Y et al.

Translational Pediatrics, 2024

Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.

Wang Z et al.

Genome Medicine, 2021

34503567 (PubMed )
Supplement: 13073_2021_964_MOESM6_ESM.xlsx › Sheet1

Merosin-deficient congenital muscular dystrophy, autosomal recessive (MDC1A, MIM#156225, LAMA2 gene coding for alpha2 chain of laminin).

Allamand V et al.

European Journal of Human Genetics : Ejhg, 2002

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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."