Publications:

Identification of Germline Mutations in Upper Tract Urothelial Carcinoma With Suspected Lynch Syndrome.

Frontiers In Oncology

Guan, Bao B; Wang, Jie J; Li, Xuesong X; Lin, Lin L; Fang, Dong D; Kong, Wenwen W; Tian, Chuangyu C; Li, Juan J; Yang, Kunlin K; Han, Guanpeng G; Wu, Yucai Y; He, Yuhui Y; Peng, Yiji Y; Yu, Yanfei Y; He, Qun Q; He, Shiming S; Gong, Yanqing Y; Zhou, Liqun L; Tang, Qi Q

Publication Date: 2022

Variant appearance in text: PKD1: 6285C>A; Asp2095Glu

PubMed Link: 35372080

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

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Complicated paroxysmal kinesigenic dyskinesia associated with SACS mutations.

Annals Of Translational Medicine

Lu, Qiang Q; Shang, Liang L; Tian, Wo Tu WT; Cao, Li L; Zhang, Xue X; Liu, Qing Q

Publication Date: 2020-01

Variant appearance in text: PKD1: 6285C>A; D2095E

PubMed Link: 32055599

Variant Present in the following documents:

• Main text

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Genetic Characteristics of Korean Patients with Autosomal Dominant Polycystic Kidney Disease by Targeted Exome Sequencing.

Scientific Reports

Kim, Hyunsuk H; Park, Hayne Cho HC; Ryu, Hyunjin H; Kim, Hyunho H; Lee, Hyun-Seob HS; Heo, Jongho J; Lee, Chung C; Kim, Nayoung K D NKD; Park, Woong-Yang WY; Hwang, Young-Hwan YH; Lee, Kyu Beck KB; Oh, Kook-Hwan KH; Oh, Yun Kyu YK; Ahn, Curie C

Publication Date: 2019-11-18

Variant appearance in text: PKD1: 6285C>A; Asp2095Glu

PubMed Link: 31740684

Variant Present in the following documents:

• 41598_2019_52474_MOESM1_ESM.pdf

View BVdb publication page