Varaico: Literature-Extracted Genetic Variants

Gene:CDC73
Variant:p.M1V
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CDC73

NM_024529.5:p.M1V

Associated Papers

Insights into Hyperparathyroidism-Jaw Tumour Syndrome: From Endocrine Acumen to the Spectrum of CDC73 Gene and Parafibromin-Deficient Tumours.

Gheorghe AM et al.

International Journal of Molecular Sciences, 2024

Phenotypic Profiling and Molecular Mechanisms in Hyperparathyroidism-jaw Tumor Syndrome.

Tora R et al.

The Journal of Clinical Endocrinology and Metabolism, 2023

A two-generation hyperparathyroidism-jaw tumor (HPT-JT) syndrome family: clinical presentations, pathological characteristics and genetic analysis: a case report.

Yang D et al.

Diagnostic Pathology, 2022

Molecular Profiling of Hard-to-Treat Childhood and Adolescent Cancers.

Khater F et al.

Jama Network Open, 2019

Mutational and large deletion study of genes implicated in hereditary forms of primary hyperparathyroidism and correlation with clinical features.

Pardi E et al.

Plos One, 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."