Varaico: Literature-Extracted Genetic Variants

Gene:NEFL
Variant:p.A321_N326del0
Back to variants list

NEFL

NM_006158.5:p.A321_N326del0

Associated Papers

A novel pathogenic variant of NEFL responsible for deafness associated with peripheral neuropathy discovered through next-generation sequencing and review of the literature.

Lerat J et al.

Journal of the Peripheral Nervous System : Jpns, 2019

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."