Varaico: Literature-Extracted Genetic Variants

Gene:PCDH12
Variant:p.S838fs
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PCDH12

NM_016580.4:p.S838fs

Associated Papers

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

Mattioli F et al.

American Journal of Medical Genetics. Part A, 2021

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."