ABCA4 c.1290dup ;(p.W431Lfs*13)

Variant ID: 1-94544211-A-AG

NM_000350.2(ABCA4):c.1290dup;(p.W431Lfs*13)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Identification of Four Novel Variants and Determination of Genotype-Phenotype Correlations for ABCA4 Variants Associated With Inherited Retinal Degenerations.

Frontiers In Cell And Developmental Biology
Zhu, Qing Q; Rui, Xue X; Li, Ya Y; You, Ya Y; Sheng, Xun-Lun XL; Lei, Bo B
Publication Date: 2021

Variant appearance in text: CORD3: 1290dupC
PubMed Link: 33732702
Variant Present in the following documents:
  • Main text
  • fcell-09-634843.pdf
View BVdb publication page