Varaico: Literature-Extracted Genetic Variants

Gene:RP1
Variant:p.N1971K
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RP1

NM_006269.2:p.N1971K

Associated Papers

Genotype-Phenotype Correlations in RP1-Associated Retinal Dystrophies: A Multi-Center Cohort Study in JAPAN.

Mizobuchi K et al.

Journal of Clinical Medicine, 2021

Diverse Genetic Landscape of Suspected Retinitis Pigmentosa in a Large Korean Cohort.

Kim YJ et al.

Genes, 2021

33946315 (PubMed )
Supplement: genes-12-00675-s001.zip › genes-1171954-supplementary.pdf

Genetic Profile and Associated Characteristics of 150 Korean Patients with Retinitis Pigmentosa.

Kim YN et al.

Journal of Ophthalmology, 2021

Mutations driving CLL and their evolution in progression and relapse.

Landau DA et al.

Nature, 2015

26466571 (PubMed )
Supplement: NIHMS715090-supplement-Supplementary_Table_3.xlsx › mutation_annotation_file_538_co
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