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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PXDN

Variant:p.Y1205C

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PXDN

NM_012293.3:p.Y1205C

hg38:chr2:1644747 T>C

Associated Papers

A bird's eye view on the use of whole exome sequencing in rare congenital ophthalmic diseases.

Zucco J et al.

Journal of Human Genetics, 2024

38459225 (PubMed )

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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."