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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PRSS56

Variant:p.A49T

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PRSS56

NM_001195129.2:p.A49T

hg38:chr2:232521368 G>A

Associated Papers

Nanophthalmos with Foveal Hypoplasia and Wrinkling of Macular Mound Caused by Novel Biallelic PRSS56 Variants: A Case Report.

Kim M et al.

Korean Journal of Ophthalmology : Kjo, 2024

39434572 (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."