Varaico: Literature-Extracted Genetic Variants

Gene:PCDH12
Variant:p.P223insFs
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PCDH12

NM_016580.4:p.P223insFs

Associated Papers

Neuroimaging to Genetics: Unraveling the Etiology of Cerebral Palsy in Children From Southern Brazil.

Do Valle DA et al.

Journal of Child Neurology, 2026

40534433 (PubMed )
Supplement: sj-pdf-1-jcn-10.1177_08830738251346918.pdf

Ophthalmic phenotypes associated with biallelic loss-of-function PCDH12 variants.

Mattioli F et al.

American Journal of Medical Genetics. Part A, 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."