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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CHD4

Variant:p.I627fs

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CHD4

NM_001273.5:p.I627fs

hg38:chr12:6597907 GAT>N

Associated Papers

De novo variants in GATAD2A in individuals with a neurodevelopmental disorder: GATAD2A-related neurodevelopmental disorder.

Werren EA et al.

Hgg Advances, 2023

37181331 (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."