Varaico: Literature-Extracted Genetic Variants

Gene:PTH
Variant:p.V52I
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PTH

NM_000315.4:p.V52I

Associated Papers

Genetic screening in a large Chinese cohort of adult-onset non-surgical hypoparathyroidism.

Yang J et al.

Endocrine, 2025

Two novel rare variants in the PTH gene found in patients with hypoparathyroidism.

Jiang Y et al.

Osteoporosis and Sarcopenia, 2025

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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."