Varaico: Literature-Extracted Genetic Variants

Gene:CABLES1
Variant:p.G312D
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CABLES1

NM_001100619.3:p.G312D

Associated Papers

Gene Mutations in Cushing's Syndrome.

Ojha U et al.

Molecular Syndromology, 2023

Novel Insights into Pituitary Tumorigenesis: Genetic and Epigenetic Mechanisms.

Srirangam Nadhamuni V et al.

Endocrine Reviews, 2020

Loss-of-function mutations in the CABLES1 gene are a novel cause of Cushing's disease.

Hernández-Ramírez LC et al.

Endocrine-related Cancer, 2017

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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."