Varaico: Literature-Extracted Genetic Variants

Gene:RP1
Variant:p.K1581insFs
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RP1

NM_006269.2:p.K1581insFs

Associated Papers

A comprehensive genetic landscape of inherited retinal diseases in a large Pakistani cohort.

Ullah M et al.

Npj Genomic Medicine, 2025

40180963 (PubMed )
Supplement: 41525_2025_488_MOESM2_ESM.xlsx › Sheet1

Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration.

Ma DJ et al.

Bmc Medical Genomics, 2021

33691693 (PubMed )
Supplement: 12920_2021_874_MOESM1_ESM.xlsx › Sheet1

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

Application of Whole Exome and Targeted Panel Sequencing in the Clinical Molecular Diagnosis of 319 Chinese Families with Inherited Retinal Dystrophy and Comparison Study.

Wang L et al.

Genes, 2018

30029497 (PubMed )
Supplement: genes-09-00360-s001.zip › TableS1.xlsx › Sheet1
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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."