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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PTH1R

Variant:p.G194R

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PTH1R

NM_000316.3:p.G194R

hg38:chr3:46898414 G>C

Associated Papers

New Insight into the genotype-phenotype correlation of PTH1R variants and primary failure of tooth eruption on an Italian Cohort.

Modafferi C et al.

European Journal of Human Genetics : Ejhg, 2024

39327493 (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."