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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PTH1R

Variant:p.E169A

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PTH1R

NM_000316.3:p.E169A

hg38:chr3:46898155 A>C

Associated Papers

A novel nonsense PTH1R variant shows incomplete penetrance of primary failure of eruption: a case report.

Grippaudo C et al.

Bmc Oral Health, 2019

31730001 (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."