Varaico: Literature-Extracted Genetic Variants

Gene:RDH12
Variant:p.K192E
Back to variants list

RDH12

NM_152443.3:p.K192E

Associated Papers

Detection of variants in 15 genes in 87 unrelated Chinese patients with Leber congenital amaurosis.

Li L et al.

Plos One, 2011

21602930 (PubMed )
Supplement: pone.0019458.s005.xls › Sheet1

[Genetic and clinical heterogeneity in LCA patients. The end of uniformity].

Preising MN et al.

Der Ophthalmologe : Zeitschrift Der Deutschen Ophthalmologischen Gesellschaft, 2007

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."