Publications:

A glioneuronal tumor with CLIP2-MET fusion.

Npj Genomic Medicine

Chowdhury, Tamrin T; Lee, Yeajina Y; Kim, Sojin S; Yu, Hyeon Jong HJ; Ji, So Young SY; Bae, Jeong Mo JM; Won, Jae Kyung JK; Shin, Joo Heon JH; Weinberger, Daniel R DR; Choi, Seung Hong SH; Park, Chul-Kee CK; Kim, Jong-Il JI; Park, Sung-Hye SH

Publication Date: 2020

Variant appearance in text: MUC6: P2001A

PubMed Link: 32550005

Variant Present in the following documents:

• 41525_2020_131_MOESM2_ESM.xlsx, sheet 3

View BVdb publication page

Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation

Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H

Publication Date: 2017

Variant appearance in text: rs199626069

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page