Varaico: Literature-Extracted Genetic Variants

Gene:POU4F2
Variant:p.D139E
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POU4F2

NM_004575.3:p.D139E

Associated Papers

Morphogenetic defects underlie Superior Coloboma, a newly identified closure disorder of the dorsal eye.

Hocking JC et al.

Plos Genetics, 2018

29522511 (PubMed )
Supplement: pgen.1007246.s002.xlsx › Sheet1

Detection of novel genetic variation in autosomal dominant retinitis pigmentosa.

Borràs E et al.

Clinical Genetics, 2013

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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."