Varaico: Literature-Extracted Genetic Variants

Gene:TULP3
Variant:p.K242R
Back to variants list

TULP3

NM_003324.5:p.K242R

Associated Papers

A novel homozygous variant in an Iranian pedigree with cerebellar ataxia, mental retardation, and dysequilibrium syndrome type 4.

Mohamadian M et al.

Journal of Clinical Laboratory Analysis, 2020

33079427 (PubMed )
Supplement: JCLA-34-e23484-s001.xlsx › Sheet2
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."