Varaico: Literature-Extracted Genetic Variants

Gene:IMPDH1
Variant:p.T244P
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IMPDH1

NM_000883.4:p.T244P

Associated Papers

Disease progression in IMPDH1 gene-associated rod-cone dystrophy caused by a rare p.Thr244Pro heterozygous variant.

Barboni M et al.

Documenta Ophthalmologica. Advances in Ophthalmology, 2026

Whole-Exome Analysis for Polish Caucasian Patients with Retinal Dystrophies and the Creation of a Reference Genomic Database for the Polish Population.

Matczyńska E et al.

Genes, 2024

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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."