Varaico: Literature-Extracted Genetic Variants

Gene:PDE11A
Variant:p.P51L
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PDE11A

NM_016953.4:p.P51L

Associated Papers

Expanding the phenotypic spectrum associated with CFAP43 mutations: a case report of familial male infertility with respiratory manifestations.

Awad F et al.

Frontiers in Reproductive Health, 2025

41341611 (PubMed )
Supplement: Datasheet1.xlsx › Patient_1

High-frequency variants in PKA signaling-related genes within a large pediatric cohort with obesity or metabolic abnormalities.

Bloyd M et al.

Frontiers in Endocrinology, 2023

Germline Variants in Phosphodiesterase Genes and Genetic Predisposition to Pediatric Adrenocortical Tumors.

Pinto EM et al.

Cancers, 2020

32098292 (PubMed )
Supplement: cancers-12-00506-s001.zip › Table_S3.xlsx › Sheet1
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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."