Varaico: Literature-Extracted Genetic Variants

Gene:ARAF
Variant:p.D228V
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ARAF

NM_001654.5:p.D228V

Associated Papers

Clinical, Laboratory, and Imaging Features Associated with Arginine Vasopressin Deficiency (Central Diabetes Insipidus) in Erdheim-Chester Disease (ECD).

Vaid S et al.

Cancers, 2025

[Mutation pedigree and treatment selection of Erdheim-Chester disease].

Lang M et al.

Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi, 2023

Pituitary Imaging Abnormalities and Related Endocrine Disorders in Erdheim-Chester Disease.

Shekhar S et al.

Cancers, 2021

Activating mutations in CSF1R and additional receptor tyrosine kinases in histiocytic neoplasms.

Durham BH et al.

Nature Medicine, 2019

31768065 (PubMed )
Supplement: NIHMS1541330-supplement-1.pdf

The clinical spectrum of Erdheim-Chester disease: an observational cohort study.

Estrada-Veras JI et al.

Blood Advances, 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."