Varaico: Literature-Extracted Genetic Variants

Gene:PTH
Variant:p.K29N
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PTH

NM_000315.4:p.K29N

Associated Papers

Homozygous Ser-1 to Pro-1 mutation in parathyroid hormone identified in hypocalcemic patients results in secretion of a biologically inactive pro-hormone.

Hanna P et al.

Proceedings of the National Academy of Sciences of the United States of America, 2023

36795755 (PubMed )
Supplement: pnas.2208047120.sapp.pdf
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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."