Varaico: Literature-Extracted Genetic Variants

Gene:RP1
Variant:p.M479I
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RP1

NM_006269.2:p.M479I

Associated Papers

Disease asymmetry and hyperautofluorescent ring shape in retinitis pigmentosa patients.

Jauregui R et al.

Scientific Reports, 2020

32098976 (PubMed )
Supplement: 41598_2020_60137_MOESM1_ESM.pdf

Targeted next-generation sequencing as a comprehensive test for Mendelian diseases: a cohort diagnostic study.

Sun Y et al.

Scientific Reports, 2018

30076350 (PubMed )
Supplement: 41598_2018_30151_MOESM1_ESM.docx

A novel missense RP1 mutation in retinitis pigmentosa.

Chiang SW et al.

Eye (london, England), 2006

[Digenic association of RHO and RP1 genes with retinitis pigmentosa among Chinese population in Hong Kong].

Wang DY et al.

Zhonghua Yi Xue Za Zhi, 2005

[Mutation analysis of retinitis pigmentosa 1 gene in Chinese with retinitis pigmentosa].

Zhang X et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2002

RP1 in Chinese: Eight novel variants and evidence that truncation of the extreme C-terminal does not cause retinitis pigmentosa.

Baum L 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."