ABCA1 c.6715_6717delinsAAC ;(p.Q2239N)

Variant ID: 9-107546665-CTG-GTT

NM_005502.3(ABCA1):c.6715_6717delinsAAC;(p.Q2239N)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Functional rescue of mutant ABCA1 proteins by sodium 4-phenylbutyrate.

Journal Of Lipid Research
Sorrenson, Brie B; Suetani, Rachel J RJ; Williams, Michael J A MJ; Bickley, Vivienne M VM; George, Peter M PM; Jones, Gregory T GT; McCormick, Sally P A SP
Publication Date: 2013-01

Variant appearance in text: ABCA1: Q2239N
PubMed Link: 23087442
Variant Present in the following documents:
  • Main text
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