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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ZNF517

Variant:p.G341_V342delins

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ZNF517

NM_001317936.2:p.G341_V342delins

hg38:chr8:144807960 CGT>TGC

Associated Papers

Genetic Diagnostics and Phenotypic Profiling of a Girl With Autosomal Recessive Intellectual Developmental Disorder and Autism.

Lakatosova S et al.

Cureus, 2024

39723281 (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."