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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NKX2-1

Variant:p.G84_N90del7

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NKX2-1

NM_003317.4:p.G84_N90del7

hg38:chr14:36519087 GGTTGCCGTTGCAGTAGCCCCC>G

Associated Papers

NKX2-1 mutation in a family diagnosed with ataxic dyskinetic cerebral palsy.

McMichael G et al.

European Journal of Medical Genetics, 2013

23911641 (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."