Varaico: Literature-Extracted Genetic Variants

Gene:PRX
Variant:p.P418_T419insG
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PRX

NM_181882.3:p.P418_T419insG

Associated Papers

Abnormal Splicing in the Final Intron of PRX Results in Dominant Congenital Cataract Without Neurological Phenotype.

Reis LM et al.

Investigative Ophthalmology & Visual Science, 2025

Screening for PRX mutations in a large Chinese Charcot-Marie-Tooth disease cohort and literature review.

Ma X et al.

Frontiers in Neurology, 2023

37470010 (PubMed )
Supplement: Table_1.docx
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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."