Varaico: Literature-Extracted Genetic Variants

Gene:PTRH1
Variant:p.S101T
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PTRH1

NM_001002913.3:p.S101T

Associated Papers

[Familial Hypocalciuric Hypercalcemia Type 1 Likely Secondary to a New Inactivating Mutation of CASR].

Zanchelli F et al.

Giornale Italiano Di Nefrologia : Organo Ufficiale Della Societa Italiana Di Nefrologia, 2024

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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."