Varaico: Literature-Extracted Genetic Variants

Gene:PDE11A
Variant:p.Y658C
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PDE11A

NM_016953.4:p.Y658C

Associated Papers

PDE11A Is a Phenotype Modulator of Primary Bilateral Macronodular Adrenal Hyperplasia: Results of a 334-Patient Series.

Vaduva P et al.

The Journal of Clinical Endocrinology and Metabolism, 2025

Germline targeted next-generation sequencing in patients with adrenal incidentalomas.

Messina E et al.

Frontiers in Endocrinology, 2025

Detection of germline variants with pathogenic potential in 48 patients with familial colorectal cancer by using whole exome sequencing.

Singh AK et al.

Bmc Medical Genomics, 2023

37296477 (PubMed )
Supplement: 12920_2023_1562_MOESM3_ESM.xlsx › Stage3.1-Class3_variants

Primary bilateral macronodular adrenal hyperplasia: definitely a genetic disease.

Cavalcante IP et al.

Nature Reviews. Endocrinology, 2022

Phosphodiesterase 11A (PDE11A) gene defects in patients with acth-independent macronodular adrenal hyperplasia (AIMAH): functional variants may contribute to genetic susceptibility of bilateral adrenal tumors.

Vezzosi D et al.

The Journal of Clinical Endocrinology and Metabolism, 2012

Phosphodiesterase 11A (PDE11A) genetic variants may increase susceptibility to prostatic cancer.

Faucz FR et al.

The Journal of Clinical Endocrinology and Metabolism, 2011

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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."