Varaico: Literature-Extracted Genetic Variants

Gene:GPATCH3
Variant:p.E38K
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GPATCH3

NM_022078.3:p.E38K

Associated Papers

Whole-Exome Sequencing of Congenital Glaucoma Patients Reveals Hypermorphic Variants in GPATCH3, a New Gene Involved in Ocular and Craniofacial Development.

Ferre-Fernández JJ et al.

Scientific Reports, 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."