Varaico: Literature-Extracted Genetic Variants

Gene:PTH
Variant:p.I36insFs
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PTH

NM_000315.4:p.I36insFs

Associated Papers

Familial Hypocalciuric Hypercalcemia Type 1 and Autosomal-Dominant Hypocalcemia Type 1: Prevalence in a Large Healthcare Population.

Dershem R et al.

American Journal of Human Genetics, 2020

32386559 (PubMed )
Supplement: mmc2.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."