ABCA1 c.1779C>G ;(p.F593L)

Variant ID: 9-107593319-G-C

NM_005502.3(ABCA1):c.1779C>G;(p.F593L)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Differential phospholipid substrates and directional transport by ATP-binding cassette proteins ABCA1, ABCA7, and ABCA4 and disease-causing mutants.

The Journal Of Biological Chemistry
Quazi, Faraz F; Molday, Robert S RS
Publication Date: 2013-11-29

Variant appearance in text: ABCA1: F593L
PubMed Link: 24097981
Variant Present in the following documents:
  • Main text
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