Varaico: Literature-Extracted Genetic Variants

Gene:PCDH15
Variant:p.D435insFs
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PCDH15

NM_001142769.3:p.D435insFs

Associated Papers

In silico analysis of a disease-causing mutation in PCDH15 gene in a consanguineous Pakistani family with Usher phenotype.

Saleha S et al.

International Journal of Ophthalmology, 2016

Targeted next generation sequencing for molecular diagnosis of Usher syndrome.

Aparisi MJ et al.

Orphanet Journal of Rare Diseases, 2014

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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."