Varaico: Literature-Extracted Genetic Variants

Gene:PTH1R
Variant:p.A210V
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PTH1R

NM_000316.3:p.A210V

Associated Papers

A Novel Heterozygous Missense Variant in Parathyroid Hormone 1 is Related to the Occurrence of Developmental Dysplasia of the Hip.

Yang D et al.

Genetic Testing and Molecular Biomarkers, 2023

Mutational Screening of Skeletal Genes in 14 Chinese Children with Osteogenesis Imperfecta Using Targeted Sequencing.

Tan W et al.

Journal of Immunology Research, 2022

Primary failure of eruption: From molecular diagnosis to therapeutic management.

Wagner D et al.

Journal of Oral Biology and Craniofacial Research, 0

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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."