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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:LAMA1

Variant:p.A1242T

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LAMA1

NM_005559.4:p.A1242T

hg38:chr18:7010349 C>T

Associated Papers

A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders.

Ngo KJ et al.

Human Mutation, 2020

31692161 (PubMed )

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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."