Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A2
Variant:p.R545C
Back to variants list

SLC26A2

NM_000112.4:p.R545C

Associated Papers

Detection of germline variants with pathogenic potential in 48 patients with familial colorectal cancer by using whole exome sequencing.

Singh AK et al.

Bmc Medical Genomics, 2023

37296477 (PubMed )
Supplement: 12920_2023_1562_MOESM3_ESM.xlsx › Stage3.1-Class3_variants

Identification of Novel Risk Variants of Non-Syndromic Cleft Palate by Targeted Gene Panel Sequencing.

Dąbrowska J et al.

Journal of Clinical Medicine, 2023

36902838 (PubMed )
Supplement: jcm-12-02051-s001.zip › Supplementary_Tables_1-4.xlsx › ST4
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."