Varaico: Literature-Extracted Genetic Variants

Gene:NDUFAF7
Variant:p.S192fs
Back to variants list

NDUFAF7

NM_144736.5:p.S192fs

Associated Papers

A glioneuronal tumor with CLIP2-MET fusion.

Chowdhury T et al.

Npj Genomic Medicine, 2020

32550005 (PubMed )
Supplement: 41525_2020_131_MOESM2_ESM.xlsx › Mutation__exonic_splicing_

Isolated nigral degeneration without pathological protein aggregation in autopsied brains with LRRK2 p.R1441H homozygous and heterozygous mutations.

Takanashi M et al.

Acta Neuropathologica Communications, 2018

30333048 (PubMed )
Supplement: 40478_2018_617_MOESM1_ESM.docx
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."