Varaico: Literature-Extracted Genetic Variants

Gene:LAMA1
Variant:p.D210N
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LAMA1

NM_005559.4:p.D210N

Associated Papers

Therapeutic targeting of ARID1A and PI3K/AKT pathway alterations in cholangiocarcinoma.

Tessiri S et al.

Peerj, 2022

35070505 (PubMed )
Supplement: peerj-10-12750-s003.xlsx › Supplemental_Table1

A presynaptic congenital myasthenic syndrome attributed to a homozygous sequence variant in LAMA5.

Maselli RA et al.

Annals of the New York Academy of Sciences, 2018

Presynaptic congenital myasthenic syndrome with a homozygous sequence variant in LAMA5 combines myopia, facial tics, and failure of neuromuscular transmission.

Maselli RA et al.

American Journal of Medical Genetics. Part A, 2017

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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."