Varaico: Literature-Extracted Genetic Variants

Gene:MCPH1
Variant:p.E22K
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MCPH1

NM_024596.5:p.E22K

Associated Papers

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

Luo S et al.

Heliyon, 2024

Phenotypes and genotypes in non-consanguineous and consanguineous primary microcephaly: High incidence of epilepsy.

Duerinckx S et al.

Molecular Genetics & Genomic Medicine, 2021

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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."