Varaico: Literature-Extracted Genetic Variants

Gene:NRL
Variant:p.P51R
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NRL

NM_001354768.3:p.P51R

Associated Papers

Determinants of diagnostic yield in a multi-ethnic Asian inherited retinal disease cohort.

Lieviant JA et al.

European Journal of Human Genetics : Ejhg, 2025

40114034 (PubMed )
Supplement: 41431_2025_1833_MOESM3_ESM.xlsx › Supplementary_Table_1

Molecular and phenotypic investigation of a New Zealand cohort of childhood-onset retinal dystrophy.

Hull S et al.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2020

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