Varaico: Literature-Extracted Genetic Variants

Gene:MCPH1
Variant:p.P418delFs
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MCPH1

NM_024596.5:p.P418delFs

Associated Papers

Functional analysis of a novel intronic variant of MCPH1 with autosomal recessive primary microcephaly.

Luo S et al.

Heliyon, 2024

The Central Domain of MCPH1 Controls Development of the Cerebral Cortex and Gonads in Mice.

Wang Y et al.

Cells, 2022

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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