Varaico: Literature-Extracted Genetic Variants

Gene:ZDHHC2
Variant:p.G288D
Back to variants list

ZDHHC2

NM_016353.5:p.G288D

Associated Papers

Molecular and phenotypic analysis of a family with autosomal recessive cone-rod dystrophy and Stargardt disease.

Yzer S et al.

Molecular Vision, 2007

Microarray-based mutation analysis of the ABCA4 (ABCR) gene in autosomal recessive cone-rod dystrophy and retinitis pigmentosa.

Klevering BJ et al.

European Journal of Human Genetics : Ejhg, 2004

[From gene to disease: from the ABCA4 gene to Stargardt disease, cone-rod dystrophy and retinitis pigmentosa].

Cremers FP et al.

Nederlands Tijdschrift Voor Geneeskunde, 2002

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."