Varaico: Literature-Extracted Genetic Variants

Gene:MCPH1
Variant:p.D419fs
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MCPH1

NM_024596.5:p.D419fs

Associated Papers

Identification of Pathogenic Mutations in Primary Microcephaly- (MCPH-) Related Three Genes CENPJ, CASK, and MCPH1 in Consanguineous Pakistani Families.

Khan NM et al.

Biomed Research International, 2022

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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."