Publications:

Whole exome sequencing identified a novel POT1 variant as a candidate pathogenic allele underlying a Li-Fraumeni-like family.

Frontiers In Oncology

Li, Yuping Y; Xie, Yupeng Y; Wang, Di D; Xu, Hanyan H; Ye, Junru J; Yin, Jiani C JC; Chen, Junjie J; Yan, Junrong J; Ye, Bin B; Chen, Chengshui C

Publication Date: 2022

Variant appearance in text: WNK4: 3134C>T; S1045L

PubMed Link: 36387164

Variant Present in the following documents:

• Table_1.xlsx, sheet 1

View BVdb publication page

Molecular Characterization and Putative Pathogenic Pathways of Tuberous Sclerosis Complex-Associated Renal Cell Carcinoma.

Translational Oncology

Park, Jeong Hwan JH; Lee, Cheol C; Chang, Mee Soo MS; Kim, Kwangsoo K; Choi, Seongmin S; Lee, Hyunjung H; Lee, Hyun-Seob HS; Moon, Kyung Chul KC

Publication Date: 2018-08

Variant appearance in text: WNK4: 3134C>T; S1045L

PubMed Link: 29925043

Variant Present in the following documents:

• mmc3.xlsx, sheet 7

View BVdb publication page