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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PTH1R

Variant:p.Y134*

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PTH1R

NM_000316.3:p.Y134*

hg38:chr3:46897943 C>A

Associated Papers

Functional Properties of Two Distinct PTH1R Mutants Associated With Either Skeletal Defects or Pseudohypoparathyroidism.

Portales-Castillo I et al.

Jbmr Plus, 2022

35720667 (PubMed )

Supplement: JBM4-6-e10604-s001.zip › jbm410604-sup-0001-Supinfo.pdf

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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."