ABCA4 c.5196+4del

Variant ID: 1-94485133-CT-C

NM_000350.2(ABCA4):c.5196+4del

This variant was identified in 1 publication

View GRCh38 version.




Publications:


ABCA4 gene analysis in patients with autosomal recessive cone and cone rod dystrophies.

European Journal Of Human Genetics : Ejhg
Kitiratschky, Veronique B D VB; Grau, Tanja T; Bernd, Antje A; Zrenner, Eberhart E; Jägle, Herbert H; Renner, Agnes B AB; Kellner, Ulrich U; Rudolph, Günther G; Jacobson, Samuel G SG; Cideciyan, Artur V AV; Schaich, Simone S; Kohl, Susanne S; Wissinger, Bernd B
Publication Date: 2008-07

Variant appearance in text: ABCA4: 5196+4del
PubMed Link: 18285826
Variant Present in the following documents:
  • Main text
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