Varaico: Literature-Extracted Genetic Variants

Gene:PDE6A
Variant:p.W243*
Back to variants list

PDE6A

NM_000440.3:p.W243*

Associated Papers

Age-Stratified Genetic Spectrum of Retinitis Pigmentosa in Korean Patients: Predominance of RPGR Variants in Early-Onset Disease.

Hong YJ et al.

Annals of Laboratory Medicine, 2025

41457516 (PubMed )
Supplement: alm-46-2-200-supple.pdf

Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing.

Wang X et al.

Journal of Medical Genetics, 2013

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."