Varaico: Literature-Extracted Genetic Variants

Gene:HGSNAT
Variant:p.T522M
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HGSNAT

NM_152419.3:p.T522M

Associated Papers

Exome sequencing identifies novel genetic variants in patients with atypical Non-Syndromic retinitis pigmentosa.

Yesharim L et al.

Molecular Biology Reports, 2025

NONSYNDROMIC RETINITIS PIGMENTOSA WITH BILATERAL RETINAL NEOVASCULARIZATION DUE TO HGSNAT MUTATION.

Carrera W et al.

Retinal Cases & Brief Reports, 2023

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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."