Varaico: Literature-Extracted Genetic Variants

Gene:LAMA2
Variant:p.C1548*
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LAMA2

NM_000426.4:p.C1548*

Associated Papers

Merosin-deficient congenital muscular dystrophy type 1a: detection of LAMA2 variants in Vietnamese patients.

Tran VK et al.

Frontiers in Genetics, 2023

Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness.

Töpf A et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

32528171 (PubMed )
Supplement: 41436_2020_840_MOESM10_ESM.xlsx › .
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