ABCA4 c.6098T>A ;(p.L2033H)

Variant ID: 1-94471046-A-T

NM_000350.2(ABCA4):c.6098T>A;(p.L2033H)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Genotypic spectrum and phenotype correlations of ABCA4-associated disease in patients of south Asian descent.

European Journal Of Human Genetics : Ejhg
Lee, Winston W; Schuerch, Kaspar K; Zernant, Jana J; Collison, Frederick T FT; Bearelly, Srilaxmi S; Fishman, Gerald A GA; Tsang, Stephen H SH; Sparrow, Janet R JR; Allikmets, Rando R
Publication Date: 2017-06

Variant appearance in text: ABCA4: 6098T>A; L2033H
PubMed Link: 28327576
Variant Present in the following documents:
  • Main text
View BVdb publication page