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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NECAP1

Variant:p.G101fs

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NECAP1

NM_015509.4:p.G101fs

hg38:chr12:8091769 GG>N

Associated Papers

A novel homozygous truncating variant of NECAP1 in early infantile epileptic encephalopathy: the second case report of EIEE21.

Mizuguchi T et al.

Journal of Human Genetics, 2019

30626896 (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."