Varaico: Literature-Extracted Genetic Variants

Gene:PDE4D
Variant:p.I333M
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PDE4D

NM_001104631.2:p.I333M

Associated Papers

Case Report: The widening genetic and phenotypic spectrum of ultra-rare PDE4D-related acroscyphodysplasia.

Morgul A et al.

Frontiers in Medicine, 2025

Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodysostosis to acroscyphodysplasia.

Michot C et al.

European Journal of Human Genetics : Ejhg, 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."