Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.A158T
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RHO

NM_000539.3:p.A158T

Associated Papers

Functional analysis of cone-rod homeobox (CRX) mutations associated with retinal dystrophy.

Chen S et al.

Human Molecular Genetics, 2002

Dominant Leber congenital amaurosis, cone-rod degeneration, and retinitis pigmentosa caused by mutant versions of the transcription factor CRX.

Rivolta C et al.

Human Mutation, 2001

Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies.

Sohocki MM et al.

Human Mutation, 2001

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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."