PKD1 c.450_459del ;(p.E151Rfs*136)

Variant ID: 16-2168746-TGGCTGCCTCG-T

NM_001009944.2(PKD1):c.450_459del;(p.E151Rfs*136)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Novel mutations of PKD genes in the Czech population with autosomal dominant polycystic kidney disease.

Bmc Medical Genetics
Obeidova, Lena L; Elisakova, Veronika V; Stekrova, Jitka J; Reiterova, Jana J; Merta, Miroslav M; Tesar, Vladimir V; Losan, Frantisek F; Kohoutova, Milada M
Publication Date: 2014-04-03

Variant appearance in text: PKD1: 450_459del
PubMed Link: 24694054
Variant Present in the following documents:
  • Main text
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