Publications:

Mutation spectrum of congenital heart disease in a consanguineous Turkish population.

Molecular Genetics & Genomic Medicine

Dong, Weilai W; Kaymakcalan, Hande H; Jin, Sheng Chih SC; Diab, Nicholas S NS; Tanıdır, Cansaran C; Yalcin, Ali Seyfi Yalim ASY; Ercan-Sencicek, A Gulhan AG; Mane, Shrikant S; Gunel, Murat M; Lifton, Richard P RP; Bilguvar, Kaya K; Brueckner, Martina M

Publication Date: 2022-06

Variant appearance in text: PKD1: Val3297Met

PubMed Link: 35481623

Variant Present in the following documents:

• Main text
• MGG3-10-e1944.pdf

View BVdb publication page

The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research

Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,

Publication Date: 2020-09

Variant appearance in text: PKD1: 9889G>A; Val3297Met; rs775497330

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

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Diagnosis of autosomal dominant polycystic kidney disease using efficient PKD1 and PKD2 targeted next-generation sequencing.

Molecular Genetics & Genomic Medicine

Trujillano, Daniel D; Bullich, Gemma G; Ossowski, Stephan S; Ballarín, José J; Torra, Roser R; Estivill, Xavier X; Ars, Elisabet E

Publication Date: 2014-09

Variant appearance in text: PKD1: 9889G>A; Val3297Met

PubMed Link: 25333066

Variant Present in the following documents:

• Main text
• mgg30002-0412.pdf

View BVdb publication page