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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PZP

Variant:p.L784_G785insFs

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PZP

NM_002864.3:p.L784_G785insFs

hg38:chr12:9165274 A>AG

Associated Papers

Mutations in CPAMD8 Cause a Unique Form of Autosomal-Recessive Anterior Segment Dysgenesis.

Cheong SS et al.

American Journal of Human Genetics, 2016

27839872 (PubMed )

Supplement: mmc2.pdf

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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."