Varaico: Literature-Extracted Genetic Variants

Gene:LAMA2
Variant:p.E1570_C1571delFs
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LAMA2

NM_000426.4:p.E1570_C1571delFs

Associated Papers

CRISPRa-induced upregulation of human LAMA1 compensates for LAMA2-deficiency in Merosin-deficient congenital muscular dystrophy.

Arockiaraj AI et al.

Biorxiv : the Preprint Server for Biology, 2023

Novel mutation identification and copy number variant detection via exome sequencing in congenital muscular dystrophy.

Cauley ES et al.

Molecular Genetics & Genomic Medicine, 2020

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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."