Varaico: Literature-Extracted Genetic Variants

Gene:PDE3A
Variant:p.A98E
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PDE3A

NM_000921.5:p.A98E

Associated Papers

Pirtobrutinib targets BTK C481S in ibrutinib-resistant CLL but second-site BTK mutations lead to resistance.

Naeem A et al.

Blood Advances, 2023

36287227 (PubMed )
Supplement: BLOODA_ADV-2022-008447-mmc1.xlsx › Table_S3

Genetic spectrum of Kallmann syndrome: Single-center experience and systematic review.

Patil VA et al.

Clinical Endocrinology, 2022

36138264 (PubMed )
Supplement: supplement_1.xlsx › Sheet1

Molecular genetic diagnostics of hypogonadotropic hypogonadism: from panel design towards result interpretation in clinical practice.

Butz H et al.

Human Genetics, 2021

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_S2.xlsx › Sheet1

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 884.336
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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."