Varaico: Literature-Extracted Genetic Variants

Gene:RP1
Variant:p.N985I
Back to variants list

RP1

NM_006269.2:p.N985I

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_5.XLSX › Sheet1

[Analysis of clinical phenotype and mode of inheritance in retinitis pigmentosa patients with consanguineous marriage].

Rong WN et al.

[zhonghua Yan Ke Za Zhi] Chinese Journal of Ophthalmology, 2012

Differential pattern of RP1 mutations in retinitis pigmentosa.

Zhang X et al.

Molecular Vision, 2010

Variants of RP1 gene in Chinese patients with autosomal dominant retinitis pigmentosa.

Sheng X et al.

Canadian Journal of Ophthalmology. Journal Canadien D'ophtalmologie, 2008

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."