Varaico: Literature-Extracted Genetic Variants

Gene:PIDD1
Variant:p.Q522delFs
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PIDD1

NM_145886.4:p.Q522delFs

Associated Papers

Pathogenic variants in PIDD1 lead to an autosomal recessive neurodevelopmental disorder with pachygyria and psychiatric features.

Zaki MS et al.

European Journal of Human Genetics : Ejhg, 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."