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: HR: 1936G>C; E646Q

PubMed Link: 36387164

Variant Present in the following documents:

• Table_1.xlsx, sheet 1

View BVdb publication page

Current and emerging roles of Cockayne syndrome group B (CSB) protein.

Nucleic Acids Research

Tiwari, Vinod V; Baptiste, Beverly A BA; Okur, Mustafa N MN; Bohr, Vilhelm A VA

Publication Date: 2021-03-18

Variant appearance in text: HR: E646Q

PubMed Link: 33590097

Variant Present in the following documents:

• Main text

View BVdb publication page