Varaico: Literature-Extracted Genetic Variants

Gene:PDE4D
Variant:p.R237*
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PDE4D

NM_001104631.2:p.R237*

Associated Papers

A Rare Missense Variant in TNPO2 in an Individual With a Neurodevelopmental Disability.

Cohen R et al.

American Journal of Medical Genetics. Part A, 2025

41311105 (PubMed )
Supplement: supplement_1.xlsx › Supplemental_Clinical_Table
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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."