Varaico: Literature-Extracted Genetic Variants

Gene:LRSAM1
Variant:p.E638Splc
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LRSAM1

NM_001005373.4:p.E638Splc

Associated Papers

Germline predisposition in multiple myeloma.

Martins Rodrigues F et al.

Iscience, 2025

39845416 (PubMed )
Supplement: mmc3.xlsx › ST2G.Vars_in_all_genes_Family

LRSAM1 and the RING domain: Charcot-Marie-Tooth disease and beyond.

Palaima P et al.

Orphanet Journal of Rare Diseases, 2021

A novel mutation of LRSAM1 in a Chinese family with Charcot-Marie-Tooth disease.

Zhao G et al.

Journal of the Peripheral Nervous System : Jpns, 2018

A novel mutation in LRSAM1 causes axonal Charcot-Marie-Tooth disease with dominant inheritance.

Engeholm M et al.

Bmc Neurology, 2014

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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."