Varaico: Literature-Extracted Genetic Variants

Gene:PTRH1
Variant:p.P42S
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PTRH1

NM_001002913.3:p.P42S

Associated Papers

Establishment of diagnosis by bisulfite-treated methylation-specific PCR method and analysis of clinical characteristics of pseudohypoparathyroidism type 1b.

Kinoshita K et al.

Endocrine Journal, 2011

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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."