PKD1 c.2834T>C ;(p.V945A)

Variant ID: 16-2164190-A-G

NM_001009944.2(PKD1):c.2834T>C;(p.V945A)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Targeted broad-based genetic testing by next-generation sequencing informs diagnosis and facilitates management in patients with kidney diseases.

Nephrology, Dialysis, Transplantation : Official Publication Of The European Dialysis And Transplant Association - European Renal Association
Mansilla, M Adela MA; Sompallae, Ramakrishna R RR; Nishimura, Carla J CJ; Kwitek, Anne E AE; Kimble, Mycah J MJ; Freese, Margaret E ME; Campbell, Colleen A CA; Smith, Richard J RJ; Thomas, Christie P CP
Publication Date: 2021-01-25

Variant appearance in text: PKD1: 2834T>C
PubMed Link: 31738409
Variant Present in the following documents:
  • Main text
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