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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MCPH1

Variant:p.V33G

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MCPH1

NM_024596.5:p.V33G

hg38:chr8:6409354 T>G

Associated Papers

MCPH1/BRIT1 cooperates with E2F1 in the activation of checkpoint, DNA repair and apoptosis.

Yang SZ et al.

Embo Reports, 2008

18660752 (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."