PKD1 c.12395_12403del ;(p.L4132_R4135delinsC)

Variant ID: 16-2140327-CGCAGGAACA-C

NM_001009944.2(PKD1):c.12395_12403del;(p.L4132_R4135delinsC)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Presence of de novo mutations in autosomal dominant polycystic kidney disease patients without family history.

American Journal Of Kidney Diseases : The Official Journal Of The National Kidney Foundation
Reed, Berenice B; McFann, Kim K; Kimberling, William J WJ; Pei, York Y; Gabow, Patricia A PA; Christopher, Karen K; Petersen, Eric E; Kelleher, Catherine C; Fain, Pamela R PR; Johnson, Ann A; Schrier, Robert W RW
Publication Date: 2008-12

Variant appearance in text: PKD1: 12395_12403del
PubMed Link: 18640754
Variant Present in the following documents:
  • Main text
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