Varaico: Literature-Extracted Genetic Variants

Gene:CELSR3
Variant:p.R1238C
Back to variants list

CELSR3

NM_001407.3:p.R1238C

Associated Papers

Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies.

Stegmann JD et al.

Npj Genomic Medicine, 2024

Integrated exome and transcriptome sequencing reveals ZAK isoform usage in gastric cancer.

Liu J et al.

Nature Communications, 2014

24807215 (PubMed )
Supplement: ncomms4830-s10.xls › S9-Cell_line_mutations
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."