Varaico: Literature-Extracted Genetic Variants

Gene:EPHX2
Variant:p.P512T
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EPHX2

NM_001979.6:p.P512T

Associated Papers

Genome-wide linkage and haplotype sharing analysis implicates the MCDR3 locus as a candidate region for a developmental macular disorder in association with digit abnormalities.

Cipriani V et al.

Ophthalmic Genetics, 2017

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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."