PKD1 c.5595del ;(p.L1866Sfs*83)

Variant ID: 16-2159572-GC-G

NM_001009944.2(PKD1):c.5595del;(p.L1866Sfs*83)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Identification of novel mutations in Chinese Hans with autosomal dominant polycystic kidney disease.

Bmc Medical Genetics
Yu, Chaowen C; Yang, Yuan Y; Zou, Lin L; Hu, Zhangxue Z; Li, Jing J; Liu, Yunqiang Y; Ma, Yongxin Y; Ma, Mingyi M; Su, Dan D; Zhang, Sizhong S
Publication Date: 2011-12-20

Variant appearance in text: PKD1: 5595delG; Leu1866Serfs*83
PubMed Link: 22185115
Variant Present in the following documents:
  • Main text
  • 1471-2350-12-164.pdf
View BVdb publication page