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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PTRH1

Variant:p.S153insFs

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PTRH1

NM_001002913.3:p.S153insFs

hg38:chr9:127714381 T>TG

Associated Papers

Familial isolated hyperparathyroidism due to HRPT2 mutation.

Luján D et al.

Endocrinologia, Diabetes Y Nutricion, 2018

29941370 (PubMed )

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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."