ABCA4 c.3049_3050delinsGC ;(p.H1017A)

Variant ID: 1-94510169-TG-GC

NM_000350.2(ABCA4):c.3049_3050delinsGC;(p.H1017A)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Structural basis of substrate recognition and translocation by human ABCA4.

Nature Communications
Xie, Tian T; Zhang, Zike Z; Fang, Qi Q; Du, Bowen B; Gong, Xin X
Publication Date: 2021-06-22

Variant appearance in text: ABCA4: H1017A
PubMed Link: 34158497
Variant Present in the following documents:
  • Main text
  • 41467_2021_Article_24194.pdf
  • 41467_2021_24194_MOESM1_ESM.pdf
View BVdb publication page