ABCA4 c.10G>A ;(p.V4M)

Variant ID: 1-94586592-C-T

NM_000350.2(ABCA4):c.10G>A;(p.V4M)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Exome sequencing in families with chronic central serous chorioretinopathy.

Molecular Genetics & Genomic Medicine
Schellevis, Rosa L RL; van Dijk, Elon H C EHC; Breukink, Myrte B MB; Keunen, Jan E E JEE; Santen, Gijs W E GWE; Hoyng, Carel B CB; de Jong, Eiko K EK; Boon, Camiel J F CJF; den Hollander, Anneke I AI
Publication Date: 2019-04

Variant appearance in text: ABCA4: 10G>A
PubMed Link: 30724488
Variant Present in the following documents:
  • MGG3-7-na.pdf
View BVdb publication page