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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CASP2

Variant:p.Y386delFs

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CASP2

NM_032982.4:p.Y386delFs

hg38:chr7:143304711 GT>G

Associated Papers

Bi-allelic truncating variants in CASP2 underlie a neurodevelopmental disorder with lissencephaly.

Uctepe E et al.

European Journal of Human Genetics : Ejhg, 2024

37880421 (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."