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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HIVEP2

Variant:p.P1145fs

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HIVEP2

NM_006734.4:p.P1145fs

hg38:chr6:142771306 CGG>N

Associated Papers

Novel HIVEP2 Variants in Patients with Intellectual Disability.

Park J et al.

Molecular Syndromology, 2019

31602191 (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."