Varaico: Literature-Extracted Genetic Variants

Gene:RP1
Variant:p.Q1725*
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RP1

NM_006269.2:p.Q1725*

Associated Papers

Dominant RP in the Middle While Recessive in Both the N- and C-Terminals Due to RP1 Truncations: Confirmation, Refinement, and Questions.

Wang J et al.

Frontiers in Cell and Developmental Biology, 2021

33681214 (PubMed )
Supplement: Table_4.XLSX › Sheet1

Correction: Exome Sequencing of Index Patients with Retinal Dystrophies as a Tool for Molecular Diagnosis.

Corton M et al.

Plos One, 2016

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

Kabir F et al.

Molecular Vision, 2016

Autosomal recessive retinitis pigmentosa with RP1 mutations is associated with myopia.

Chassine T et al.

The British Journal of Ophthalmology, 2015

Exome sequencing of index patients with retinal dystrophies as a tool for molecular diagnosis.

Corton M et al.

Plos One, 2013

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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."