PKD1 c.3131_3132delinsAT ;(p.L1044H)

Variant ID: 16-2162818-CA-AT

NM_001009944.2(PKD1):c.3131_3132delinsAT;(p.L1044H)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


A PKD1L3 splice variant in taste buds is not cleaved at the G protein-coupled receptor proteolytic site.

Biochemical And Biophysical Research Communications
Kashyap, Parul P; Ng, Courtney C; Wang, Zhifei Z; Li, Bin B; Arif Pavel, Mahmud M; Martin, Hannah H; Yu, Yong Y
Publication Date: 2019-05-14

Variant appearance in text: PKD1: L1044H
PubMed Link: 30928102
Variant Present in the following documents:
  • Main text
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