PKD1 c.11996_11997insTCTTCTTTT ;(p.F3996_L3998dup)

Variant ID: 16-2140891-C-CAAAAGAAGA

NM_001009944.2(PKD1):c.11996_11997insTCTTCTTTT;(p.F3996_L3998dup)

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: Leu3998_Leu3999insPheLeuLeu
PubMed Link: 24694054
Variant Present in the following documents:
  • Main text
  • 1471-2350-15-41.pdf
View BVdb publication page