Varaico: Literature-Extracted Genetic Variants

Gene:PAG1
Variant:p.H53L
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PAG1

NM_018440.4:p.H53L

Associated Papers

Boys, girls and shuttling of SRY and SOX9.

Sim H et al.

Trends in Endocrinology and Metabolism: Tem, 2008

Functional analysis of cone-rod homeobox (CRX) mutations associated with retinal dystrophy.

Chen S et al.

Human Molecular Genetics, 2002

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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."