Varaico: Literature-Extracted Genetic Variants

Gene:PTRH1
Variant:p.A103delFs
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PTRH1

NM_001002913.3:p.A103delFs

Associated Papers

Clinical and genetic characteristics of hypoparathyroidism in children: a multicenter experience in China.

Shen Y et al.

Journal of Endocrinological Investigation, 2025

Multiple endocrine neoplasia type 1 in Brazil: MEN1 founding mutation, clinical features, and bone mineral density profile.

Lourenço DM et al.

European Journal of Endocrinology, 2008

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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."