Varaico: Literature-Extracted Genetic Variants

Gene:COL12A1
Variant:p.R1965H
Back to variants list

COL12A1

NM_004370.6:p.R1965H

Associated Papers

Application of whole exome sequencing in the diagnosis of muscular disorders: a study of Taiwanese pediatric patients.

Lee CL et al.

Frontiers in Genetics, 2024

Dose Dependence Effect in Biallelic WNT10A Variant-Associated Tooth Agenesis Phenotype.

Liu H et al.

Diagnostics (basel, Switzerland), 2022

36553094 (PubMed )
Supplement: diagnostics-12-03087-s001.zip › Table_S1_.pdf

Identification of candidate genes encoding tumor-specific neoantigens in early- and late-stage colon adenocarcinoma.

Wang C et al.

Aging, 2021

33428592 (PubMed )
Supplement: aging-13-202370-s002.xlsx › neoantigen_NvsE
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."