Varaico: Literature-Extracted Genetic Variants

Gene:EYS
Variant:p.H1370Y
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EYS

NM_001142800.2:p.H1370Y

Associated Papers

Genetic Characterization of 191 Probands with Inherited Retinal Dystrophy by Targeted NGS Analysis.

Mihalich A et al.

Genes, 2024

38927702 (PubMed )
Supplement: genes-15-00766-s001.zip › Tab._S4.xlsx › Foglio1

A comprehensive WGS-based pipeline for the identification of new candidate genes in inherited retinal dystrophies.

González-Del Pozo M et al.

Npj Genomic Medicine, 2022

35246562 (PubMed )
Supplement: 41525_2022_286_MOESM1_ESM.pdf
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