PKD1 c.6882_6883del ;(p.S2295Ffs*124)

Variant ID: 16-2158285-CTG-C

NM_001009944.2(PKD1):c.6882_6883del;(p.S2295Ffs*124)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Comprehensive strategy improves the genetic diagnosis of different polycystic kidney diseases.

Journal Of Cellular And Molecular Medicine
Hu, Hua-Ying HY; Zhang, Jing J; Qiu, Wei W; Liang, Chao C; Li, Cun-Xi CX; Wei, Tian-Ying TY; Feng, Zhan-Ke ZK; Guo, Qing Q; Yang, Kai K; Liu, Zu-Guo ZG
Publication Date: 2021-05-25

Variant appearance in text: PKD1: 6882_6883delCA; S2295Ffs
PubMed Link: 34032358
Variant Present in the following documents:
  • Main text
  • JCMM-25-6318.pdf
View BVdb publication page