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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PDE4D

Variant:p.L312F

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PDE4D

NM_001104631.2:p.L312F

hg38:chr5:58993453 G>A

Associated Papers

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

Morgul A et al.

Frontiers in Medicine, 2025

40917827 (PubMed )

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