Varaico: Literature-Extracted Genetic Variants

Gene:CCDC142
Variant:p.Q730P
Back to variants list

CCDC142

NM_001365575.2:p.Q730P

Associated Papers

Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.

Sebate B et al.

Plos One, 2021

33770142 (PubMed )
Supplement: pone.0249324.s003.xlsx › 8772__III-8__

A multistage sequencing strategy pinpoints novel candidate alleles for Emery-Dreifuss muscular dystrophy and supports gene misregulation as its pathomechanism.

Meinke P et al.

Ebiomedicine, 2020

31862442 (PubMed )
Supplement: mmc1.xlsx › Family_Sequencing
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."