Varaico: Literature-Extracted Genetic Variants

Gene:LRSAM1
Variant:p.C694R
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LRSAM1

NM_001005373.4:p.C694R

Associated Papers

Classification of domains in predicted structures of the human proteome.

Schaeffer RD et al.

Proceedings of the National Academy of Sciences of the United States of America, 2023

36917664 (PubMed )
Supplement: pnas.2214069120.sd02.xlsx › Dataset_S2

C698R mutation in Lrsam1 gene impairs nerve regeneration in a CMT2P mouse model.

Moiseev D et al.

Scientific Reports, 2022

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

Palaima P et al.

Orphanet Journal of Rare Diseases, 2021

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

Reilich P et al.

Neuromuscular Disorders : Nmd, 2021

LRSAM1 E3 ubiquitin ligase: molecular neurobiological perspectives linked with brain diseases.

Mishra R et al.

Cellular and Molecular Life Sciences : Cmls, 2019

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 missense mutation of CMT2P alters transcription machinery.

Hu B et al.

Annals of Neurology, 2016

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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."