Varaico: Literature-Extracted Genetic Variants

Gene:CEP63
Variant:p.R680H
Back to variants list

CEP63

NM_001353108.3:p.R680H

Associated Papers

Functional Validation of Noncoding Variants Associated With Nonsyndromic Orofacial Cleft.

Zhu S et al.

Human Mutation, 2025

40918684 (PubMed )
Supplement: 6824122.f3.xlsx › Table_S3

Whole-genome sequencing reveals de-novo mutations associated with nonsyndromic cleft lip/palate.

Awotoye W et al.

Scientific Reports, 2022

35817949 (PubMed )
Supplement: 41598_2022_15885_MOESM1_ESM.pdf

Elucidating the pathogenesis of synchronous and metachronous tumors in a woman with endometrioid carcinomas using a whole-exome sequencing approach.

Wu RC et al.

Cold Spring Harbor Molecular Case Studies, 2017

29162652 (PubMed )
Supplement: supp_mcs.a001693_Supplemental_Table_2.xlsx › Supplementary_Table_2.txt
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."