Varaico: Literature-Extracted Genetic Variants

Gene:PITPNM3
Variant:p.Y193*
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PITPNM3

NM_001165966.2:p.Y193*

Associated Papers

Highly efficient capture approach for the identification of diverse inherited retinal disorders.

Kao HJ et al.

Npj Genomic Medicine, 2024

38195571 (PubMed )
Supplement: 41525_2023_388_MOESM4_ESM.xlsx › VUS

Mutation spectrum and genotype-phenotype correlation of inherited retinal dystrophy in Taiwan.

Chen ZJ et al.

Clinical & Experimental Ophthalmology, 2020

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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."