Varaico: Literature-Extracted Genetic Variants

Gene:CALCA
Variant:p.R84Q
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CALCA

NM_001741.3:p.R84Q

Associated Papers

Broadening the Genetic Spectrum of Painful Small-Fiber Neuropathy through Whole-Exome Study in Early-Onset Cases.

Misra K et al.

International Journal of Molecular Sciences, 2024

39000354 (PubMed )
Supplement: ijms-25-07248-s001.zip › supplementary_tables.xlsx › Table_S2

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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