PKD1 c.8970_8972del ;(p.Y2991del)

Variant ID: 16-2152611-GTAA-G

NM_001009944.2(PKD1):c.8970_8972del;(p.Y2991del)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Detection and characterization of mosaicism in autosomal dominant polycystic kidney disease.

Kidney International
Hopp, Katharina K; Cornec-Le Gall, Emilie E; Senum, Sarah R SR; Te Paske, Iris B A W IBAW; Raj, Sonam S; Lavu, Sravanthi S; Baheti, Saurabh S; Edwards, Marie E ME; Madsen, Charles D CD; Heyer, Christina M CM; Ong, Albert C M ACM; Bae, Kyongtae T KT; Fatica, Richard R; Steinman, Theodore I TI; Chapman, Arlene B AB; Gitomer, Berenice B; Perrone, Ronald D RD; Rahbari-Oskoui, Frederic F FF; Torres, Vicente E VE; , ; Harris, Peter C PC
Publication Date: 2020-02

Variant appearance in text: PKD1: 8970_8972del; Tyr2991del
PubMed Link: 31874800
Variant Present in the following documents:
  • Main text
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