Varaico: Literature-Extracted Genetic Variants

Gene:PCDH12
Variant:p.E837delFs
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PCDH12

NM_016580.4:p.E837delFs

Associated Papers

PCDH12 loss results in premature neuronal differentiation and impeded migration in a cortical organoid model.

Rakotomamonjy J et al.

Cell Reports, 2023

Impaired migration and premature differentiation underlie the neurological phenotype associated with PCDH12 loss of function.

Rakotomamonjy J et al.

Biorxiv : the Preprint Server for Biology, 2023

Loss of Protocadherin-12 Leads to Diencephalic-Mesencephalic Junction Dysplasia Syndrome.

Guemez-Gamboa A et al.

Annals of Neurology, 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."