Varaico: Literature-Extracted Genetic Variants

Gene:RP1
Variant:p.Q766*
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RP1

NM_006269.2:p.Q766*

Associated Papers

Diverse Genetic Landscape of Suspected Retinitis Pigmentosa in a Large Korean Cohort.

Kim YJ et al.

Genes, 2021

33946315 (PubMed )
Supplement: genes-12-00675-s001.zip › genes-1171954-supplementary.pdf

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

Genetic Profile and Associated Characteristics of 150 Korean Patients with Retinitis Pigmentosa.

Kim YN et al.

Journal of Ophthalmology, 2021

Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations.

Zampaglione E et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

32037395 (PubMed )
Supplement: NIHMS1572593-supplement-Supplementary_Tables.xlsx › Table_S2-solutions

The diagnostic application of targeted re-sequencing in Korean patients with retinitis pigmentosa.

Yoon CK et al.

Bmc Genomics, 2015

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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."