Varaico: Literature-Extracted Genetic Variants

Gene:GIP
Variant:p.Y52F
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GIP

NM_004123.3:p.Y52F

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

The Location of Missense Variants in the Human GIP Gene Is Indicative for Natural Selection.

Lindquist P et al.

Frontiers in Endocrinology, 2022

35846282 (PubMed )
Supplement: Table_3.xlsx › Ark_1_-_Table_1
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