Publications:

Whole exome sequencing identified mutations causing hearing loss in five consanguineous Pakistani families.

Bmc Medical Genetics

Zhou, Yingjie Y; Tariq, Muhammad M; He, Sijie S; Abdullah, Uzma U; Zhang, Jianguo J; Baig, Shahid Mahmood SM

Publication Date: 2020-07-18

Variant appearance in text: PKHD1: 4844C>T; Thr1615Met; rs147529495

PubMed Link: 32682410

Variant Present in the following documents:

• 12881_2020_1087_MOESM1_ESM.xlsx, sheet 2

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Identifying gene mutations of Chinese patients with polycystic kidney disease through targeted next-generation sequencing technology.

Molecular Genetics & Genomic Medicine

Wang, Tao T; Li, Qinggang Q; Shang, Shunlai S; Geng, Guangrui G; Xie, Yuansheng Y; Cai, Guangyan G; Chen, Xiangmei X

Publication Date: 2019-06

Variant appearance in text: PKHD1: 4844C>T; Thr1615Met

PubMed Link: 31056860

Variant Present in the following documents:

• Main text
• MGG3-7-e720.pdf

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Genomic Profiling on an Unselected Solid Tumor Population Reveals a Highly Mutated Wnt/β-Catenin Pathway Associated with Oncogenic EGFR Mutations.

Journal Of Personalized Medicine

Jiang, Jingrui J; Protopopov, Alexei A; Sun, Ruobai R; Lyle, Stephen S; Russell, Meaghan M

Publication Date: 2018-04-09

Variant appearance in text: PKHD1: T1615M

PubMed Link: 29642553

Variant Present in the following documents:

• Main text
• jpm-08-00013.pdf

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