Varaico: Literature-Extracted Genetic Variants

Gene:PRPS1
Variant:p.R96Q
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PRPS1

NM_002764.4:p.R96Q

Associated Papers

Keep an Eye on Next Generation Sequencing (NGS) Technology: Secondary Findings and Differential Diagnosis in Inherited Retinal Dystrophies (IRDs).

D'Esposito F et al.

Biomedicines, 2025

Phosphoribosyl pyrophosphate synthetase 1 (PRPS1) associated retinal degeneration: an international study.

Uner OE et al.

Ophthalmic Genetics, 2025

PRPS1-associated retinopathy: a diagnostic odyssey.

Alzahem TA et al.

Ophthalmic Genetics, 2024

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