Varaico: Literature-Extracted Genetic Variants

Gene:CDC73
Variant:p.S103Splc
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CDC73

NM_024529.5:p.S103Splc

Associated Papers

CDC73 c.1155-3A>G is a pathogenic variant that causes aberrant splicing, disrupted parafibromin expression, and hyperparathyroidism-jaw tumor syndrome.

Needleman L et al.

Jbmr Plus, 2025

Molecular genetics of syndromic and non-syndromic forms of parathyroid carcinoma.

Cardoso L et al.

Human Mutation, 2017

Familial isolated primary hyperparathyroidism/hyperparathyroidism-jaw tumour syndrome caused by germline gross deletion or point mutations of CDC73 gene in Chinese.

Kong J et al.

Clinical Endocrinology, 2014

[CDC73 gene mutation and parafibromin expression status of parathyroid carcinoma in Chinese].

Kong J et al.

Zhonghua Yi Xue Za Zhi, 2013

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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."