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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:LRSAM1

Variant:p.Q671delFs

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LRSAM1

NM_001005373.4:p.Q671delFs

hg38:chr9:127501107 GC>G

Associated Papers

Location matters - Genotype-phenotype correlation in LRSAM1 mutations associated with rare Charcot-Marie-Tooth neuropathy CMT2P.

Reilich P et al.

Neuromuscular Disorders : Nmd, 2021

33414056 (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."