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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PRSS56

Variant:p.S286delFs

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PRSS56

NM_001195129.2:p.S286delFs

hg38:chr2:232523421 CT>C

Associated Papers

Molecular diagnostic challenges for non-retinal developmental eye disorders in the United Kingdom.

Jackson D et al.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2020

32830442 (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."