Varaico: Literature-Extracted Genetic Variants

Gene:RP1
Variant:p.E2060fs
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RP1

NM_006269.2:p.E2060fs

Associated Papers

Whole-exome sequencing identified genes known to be responsible for retinitis pigmentosa in 28 Chinese families.

Shen C et al.

Molecular Vision, 2022

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

Genomic analysis identifies masqueraders of full-term cerebral palsy.

Takezawa Y et al.

Annals of Clinical and Translational Neurology, 2018

29761117 (PubMed )
Supplement: ACN3-5-538-s001.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."