Varaico: Literature-Extracted Genetic Variants

Gene:CLCNKA
Variant:p.T312I
Back to variants list

CLCNKA

NM_004070.4:p.T312I

Associated Papers

Whole Exome Sequencing to Find Candidate Variants for the Prediction of Kidney Transplantation Efficacy.

Aghamir SMK et al.

Genes, 2023

37372431 (PubMed )
Supplement: genes-14-01251-s001.zip › HGV__1.xlsx › _1

Congenital deficiency reveals critical role of ISG15 in skin homeostasis.

Malik MNH et al.

The Journal of Clinical Investigation, 2022

34847081 (PubMed )
Supplement: jci-132-141573-s270.pdf

Morphogenetic defects underlie Superior Coloboma, a newly identified closure disorder of the dorsal eye.

Hocking JC et al.

Plos Genetics, 2018

29522511 (PubMed )
Supplement: pgen.1007246.s002.xlsx › Sheet1

Diseases caused by voltage-gated ion channels.

Fontaine B et al.

Molecular Aspects of Medicine, 1997

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."