PC c.2804_2805delinsAC ;(p.A935D)

Variant ID: 11-66617501-CG-GT

NM_001040716.1(PC):c.2804_2805delinsAC;(p.A935D)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


ABCB4 missense mutations D243A, K435T, G535D, I490T, R545C, and S978P significantly impair the lipid floppase and likely predispose to secondary pathologies in the human population.

Cellular And Molecular Life Sciences : Cmls
Andress, Edward J EJ; Nicolaou, Michael M; McGeoghan, Farrell F; Linton, Kenneth J KJ
Publication Date: 2017-07

Variant appearance in text: PC: A935D
PubMed Link: 28220208
Variant Present in the following documents:
  • Main text
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