Varaico: Literature-Extracted Genetic Variants

Gene:PTH
Variant:p.M1I
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PTH

NM_000315.4:p.M1I

Associated Papers

Genetic Polymorphisms in Cytochrome P450 Enzymes Involved in Vitamin D Metabolism and the Vitamin D Receptor: Their Clinical Relevance.

Jarrar Y et al.

Journal of Personalized Medicine, 2025

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

INS-gene mutations: from genetics and beta cell biology to clinical disease.

Liu M et al.

Molecular Aspects of Medicine, 2015

Vitamin D 1alpha-hydroxylase gene mutations in patients with 1alpha-hydroxylase deficiency.

Kim CJ et al.

The Journal of Clinical Endocrinology and Metabolism, 2007

Parathyroid hormone gene polymorphism and sporadic idiopathic hypoparathyroidism.

Goswami R et al.

The Journal of Clinical Endocrinology and Metabolism, 2004

Mutational analysis of PHEX gene in X-linked hypophosphatemia.

Dixon PH et al.

The Journal of Clinical Endocrinology and Metabolism, 1998

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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."