Varaico: Literature-Extracted Genetic Variants

Gene:PDE4D
Variant:p.Y677D
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PDE4D

NM_001104631.2:p.Y677D

Associated Papers

A novel variant in the PDE4D gene is the cause of Acrodysostosis type 2 in a Lithuanian patient: a case report.

Petraitytė G et al.

Bmc Endocrine Disorders, 2021

A novel de novo PDE4D gene mutation identified in a Chinese patient with acrodysostosis.

Zhan Y et al.

Genesis (new York, N.y. : 2000), 2019

UNEXPECTED HYPERPARATHYROIDISM IN A PATIENT WITH ACRODYSOSTOSIS.

Hiers PS et al.

Aace Clinical Case Reports, 0

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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."