Varaico: Literature-Extracted Genetic Variants

Gene:PTH2R
Variant:p.A225S
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PTH2R

NM_005048.4:p.A225S

Associated Papers

Molecular and clinical features of papillary thyroid cancer in adult patients with a non-classical phenotype.

Zhou J et al.

Frontiers in Endocrinology, 2023

37124750 (PubMed )
Supplement: Table_6.xlsx › Sheet1

Family-based whole-exome sequencing identifies rare variants potentially related to cutaneous melanoma predisposition in Brazilian melanoma-prone families.

Fidalgo F et al.

Plos One, 2022

35085295 (PubMed )
Supplement: pone.0262419.s002.xlsx › 288_candidate_variants

A novel, somatic, transforming mutation in the extracellular domain of Epidermal Growth Factor Receptor identified in myeloproliferative neoplasm.

Casolari DA et al.

Scientific Reports, 2017

28550306 (PubMed )
Supplement: 41598_2017_2655_MOESM2_ESM.xls › Combined__Use_

Variation in the PTH2R gene is associated with age-related degenerative changes in the lumbar spine.

Åkesson K et al.

Journal of Bone and Mineral Metabolism, 2015

Mutation analysis of candidate genes within the 2q33.3 linkage area for familial early-onset generalised osteoarthritis.

Min JL et al.

European Journal of Human Genetics : Ejhg, 2007

Strong linkage on 2q33.3 to familial early-onset generalized osteoarthritis and a consideration of two positional candidate genes.

Meulenbelt I et al.

European Journal of Human Genetics : Ejhg, 2006

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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."