A calcium-sensing receptor allelic series and underdiagnosis of genetically driven hypocalcemia.

Am J Hum Genet · 2025 · PMC12414667 · PMID 40664210

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nominally significantno p-value reported

All six had at least a nominally significant association with reduced serum calcium levels in at least one genetically determined ancestry, including two of the three variants also found in the UKB (c.310G>A [p.Val104Ile] and c.452C>T [p.Thr151Met]).

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