Varaico: Literature-Extracted Genetic Variants

Gene:NEFL
Variant:p.Q334P
Back to variants list

NEFL

NM_006158.5:p.Q334P

Associated Papers

The 2022 Lady Estelle Wolfson lectureship on neurofilaments.

Petzold A

Journal of Neurochemistry, 2022

Genetic and clinical characteristics of NEFL-related Charcot-Marie-Tooth disease.

Horga A et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2017

Cryptic Amyloidogenic Elements in the 3' UTRs of Neurofilament Genes Trigger Axonal Neuropathy.

Rebelo AP et al.

American Journal of Human Genetics, 2016

Neurofilament light polypeptide gene N98S mutation in mice leads to neurofilament network abnormalities and a Charcot-Marie-Tooth Type 2E phenotype.

Adebola AA et al.

Human Molecular Genetics, 2015

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."