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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MCPH1

Variant:p.R171R

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MCPH1

NM_024596.5:p.R171R

hg38:chr8:6439029 G>A

Associated Papers

Familial Molecular Burden in Autism Spectrum Disorder: A Next-Generation Sequencing Study of Polish Affected Families.

Wawszczak-Kasza M et al.

International Journal of Molecular Sciences, 2025

41096937 (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."