Varaico: Literature-Extracted Genetic Variants

Gene:RP1
Variant:p.N1143I
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RP1

NM_006269.2:p.N1143I

Associated Papers

Loss of function mutations in RP1 are responsible for retinitis pigmentosa in consanguineous familial cases.

Kabir F et al.

Molecular Vision, 2016

RP1 and retinitis pigmentosa: report of novel mutations and insight into mutational mechanism.

Al-Rashed M et al.

The British Journal of Ophthalmology, 2012

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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."