Varaico: Literature-Extracted Genetic Variants

Gene:ERLIN2
Variant:p.N272fs
Back to variants list

ERLIN2

NM_007175.8:p.N272fs

Associated Papers

More autosomal dominant SPG18 cases than recessive? The first AD-SPG18 pedigree in Chinese and literature review.

Chen S et al.

Brain and Behavior, 2021

Spastic paraplegia due to recessive or dominant mutations in ERLIN2 can convert to ALS.

Amador MD et al.

Neurology. Genetics, 2019

Novel Mutations in Endoplasmic Reticulum Lipid Raft-associated Protein 2 Gene Cause Pure Hereditary Spastic Paraplegia Type 18.

Tian WT et al.

Chinese Medical Journal, 2016

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."