Varaico: Literature-Extracted Genetic Variants

Gene:PRPH2
Variant:p.S217fs
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PRPH2

NM_000322.5:p.S217fs

Associated Papers

Personalised genomic strategies improve diagnostic yield in inherited retinal dystrophies: a stepwise, patient-centred approach.

Esteve-Garcia A et al.

Eye (london, England), 2025

40926010 (PubMed )
Supplement: 41433_2025_3981_MOESM2_ESM.xlsx › Resolved_cohort

PRPH2-Related Retinal Dystrophies: Mutational Spectrum in 103 Families from a Spanish Cohort.

Fernández-Caballero L et al.

International Journal of Molecular Sciences, 2024

New Insight into the Genotype-Phenotype Correlation of PRPH2-Related Diseases Based on a Large Chinese Cohort and Literature Review.

Wang Y et al.

International Journal of Molecular Sciences, 2023

37047703 (PubMed )
Supplement: ijms-24-06728-s001.zip › WangYW-PRPH2-sup_Table_S2_sub.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."