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: MED23: 826C>T; Q276*

PubMed Link: 36387164

Variant Present in the following documents:

• Table_1.xlsx, sheet 1

View BVdb publication page

Genetic and epigenetic stability of oligodendrogliomas at recurrence.

Acta Neuropathologica Communications

Aihara, Koki K; Mukasa, Akitake A; Nagae, Genta G; Nomura, Masashi M; Yamamoto, Shogo S; Ueda, Hiroki H; Tatsuno, Kenji K; Shibahara, Junji J; Takahashi, Miwako M; Momose, Toshimitsu T; Tanaka, Shota S; Takayanagi, Shunsaku S; Yanagisawa, Shunsuke S; Nejo, Takahide T; Takahashi, Satoshi S; Omata, Mayu M; Otani, Ryohei R; Saito, Kuniaki K; Narita, Yoshitaka Y; Nagane, Motoo M; Nishikawa, Ryo R; Ueki, Keisuke K; Aburatani, Hiroyuki H; Saito, Nobuhito N

Publication Date: 2017-03-07

Variant appearance in text: MED23: Q276X

PubMed Link: 28270234

Variant Present in the following documents:

• 40478_2017_422_MOESM1_ESM.xlsx, sheet 3

View BVdb publication page