Varaico: Literature-Extracted Genetic Variants

Gene:PCDH19
Variant:p.Q434E
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PCDH19

NM_001184880.2:p.Q434E

Associated Papers

Mutations of protocadherin 19 in female epilepsy (PCDH19-FE) lead to allopregnanolone deficiency.

Tan C et al.

Human Molecular Genetics, 2015

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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."