ABCA4 c.223T>C ;(p.C75R)

Variant ID: 1-94577073-A-G

NM_000350.2(ABCA4):c.223T>C;(p.C75R)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Findings from a Genotyping Study of Over 1000 People with Inherited Retinal Disorders in Ireland.

Genes
Whelan, Laura L; Dockery, Adrian A; Wynne, Niamh N; Zhu, Julia J; Stephenson, Kirk K; Silvestri, Giuliana G; Turner, Jacqueline J; O'Byrne, James J JJ; Carrigan, Matthew M; Humphries, Peter P; Keegan, David D; Kenna, Paul F PF; Farrar, G Jane GJ
Publication Date: 2020-01-16

Variant appearance in text: ABCA4: 223T>C
PubMed Link: 31963381
Variant Present in the following documents:
  • Main text
  • genes-11-00105.pdf
View BVdb publication page