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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MCPH1

Variant:p.R66T

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MCPH1

NM_024596.5:p.R66T

hg38:chr8:6414847 G>C

Associated Papers

MCPH1 regulates chromosome condensation and shaping as a composite modulator of condensin II.

Yamashita D et al.

The Journal of Cell Biology, 2011

21911480 (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."