Varaico: Literature-Extracted Genetic Variants

Gene:MCPH1
Variant:p.K107_R108Splc
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MCPH1

NM_024596.5:p.K107_R108Splc

Associated Papers

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

Duerinckx S et al.

Molecular Genetics & Genomic Medicine, 2021

Multigene panel testing beyond BRCA1/2 in breast/ovarian cancer Spanish families and clinical actionability of findings.

Bonache S et al.

Journal of Cancer Research and Clinical Oncology, 2018

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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."