Varaico: Literature-Extracted Genetic Variants

Gene:PRKACB
Variant:p.T347M
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PRKACB

NM_182948.4:p.T347M

Associated Papers

A novel PRKACB variant associated with bilateral postaxial polydactyly and intrauterine growth restriction: A case report and literature review.

Zhang Y et al.

Global Medical Genetics, 2025

Molecular Genetic and Genomic Alterations in Cushing's Syndrome and Primary Aldosteronism.

Kamilaris CDC et al.

Frontiers in Endocrinology, 2021

PRKACB variants in skeletal disease or adrenocortical hyperplasia: effects on protein kinase A.

Espiard S et al.

Endocrine-related Cancer, 2020

Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer.

Feliubadaló L et al.

Scientific Reports, 2017

28050010 (PubMed )
Supplement: srep37984-s2.xls › Exome_geMODERATE_variants
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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."