Varaico: Literature-Extracted Genetic Variants

Gene:PLEC
Variant:p.V431_P432insFs
Back to variants list

PLEC

NM_201384.3:p.V431_P432insFs

Associated Papers

Mutation update: The spectra of PLEC sequence variants and related plectinopathies.

Vahidnezhad H et al.

Human Mutation, 2022

Clinical and genetic basis of congenital myasthenic syndromes.

Souza PV et al.

Arquivos De Neuro-psiquiatria, 2016

Congenital myasthenic syndromes: progress over the past decade.

Engel AG et al.

Muscle & Nerve, 2003

Congenital myasthenic syndromes: genetic defects of the neuromuscular junction.

Ohno K et al.

Current Neurology and Neuroscience Reports, 2002

Congenital myasthenic syndromes.

Engel AG et al.

Advances in Neurology, 2002

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."