Varaico: Literature-Extracted Genetic Variants

Gene:PQBP1
Variant:p.D150_R151delFs
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PQBP1

NM_001032382.2:p.D150_R151delFs

Associated Papers

Microphthalmos-anophthalmos-coloboma (MAC) spectrum in two brothers with Renpenning syndrome due to a truncating mutation in the polyglutamine tract binding protein 1 (PQBP1) gene.

Mameesh MM et al.

Ophthalmic Genetics, 2019

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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."