Varaico: Literature-Extracted Genetic Variants

Gene:MCPH1
Variant:p.A175_M176delFs
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MCPH1

NM_024596.5:p.A175_M176delFs

Associated Papers

Comprehensive review on the molecular genetics of autosomal recessive primary microcephaly (MCPH).

Naveed M et al.

Genetics Research, 2018

The first case of CDK5RAP2-related primary microcephaly in a non-consanguineous patient identified by next generation sequencing.

Tan CA et al.

Brain & Development, 2014

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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."