Varaico: Literature-Extracted Genetic Variants

Gene:PRPH2
Variant:p.D186D
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PRPH2

NM_000322.5:p.D186D

Associated Papers

A complex allele (1064delTC and IVS2 + 22ins7) in the peripherin/RDS gene in retinitis pigmentosa with macular dystrophy.

Bareil C et al.

Ophthalmic Genetics, 1997

Putative association of a mutant ROM1 allele with retinitis pigmentosa.

Martínez-Mir A et al.

Human Genetics, 1997

Autosomal recessive retinitis pigmentosa in Spain: evaluation of four genes and two loci involved in the disease.

Bayés M et al.

Clinical Genetics, 1996

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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."