Varaico: Literature-Extracted Genetic Variants

Gene:RPE65
Variant:p.K376_A377Splc
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RPE65

NM_000329.3:p.K376_A377Splc

Associated Papers

The genetic landscape of inherited retinal dystrophies in Arabs.

Jaffal L et al.

Bmc Medical Genomics, 2023

37127645 (PubMed )
Supplement: 12920_2023_1518_MOESM2_ESM.xlsx › Sheet1

Performance evaluation of differential splicing analysis methods and splicing analytics platform construction.

Li K et al.

Nucleic Acids Research, 2022

35993808 (PubMed )
Supplement: gkac686_supplemental_files.zip › Table_S4_The_positive_and_negative_splicing_variants_benchmarker.xlsx › ROC

Clinical and genetic spectrums of 413 North African families with inherited retinal dystrophies and optic neuropathies.

Bouzidi A et al.

Orphanet Journal of Rare Diseases, 2022

35551639 (PubMed )
Supplement: 13023_2022_2340_MOESM2_ESM.xlsx › Feuil_1

Genetic spectrum of retinal dystrophies in Tunisia.

Habibi I et al.

Scientific Reports, 2020

Identifying mutations in Tunisian families with retinal dystrophy.

Habibi I et al.

Scientific Reports, 2016

Retinitis pigmentosa: mutations in a receptor tyrosine kinase gene, MERTK.

Kumar A

Journal of Biosciences, 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."