Varaico: Literature-Extracted Genetic Variants

Gene:PTH2R
Variant:p.G258D
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PTH2R

NM_005048.4:p.G258D

Associated Papers

Molecular insights into differentiated ligand recognition of the human parathyroid hormone receptor 2.

Wang X et al.

Proceedings of the National Academy of Sciences of the United States of America, 2021

Evolutionary conserved networks of human height identify multiple Mendelian causes of short stature.

Hauer NN et al.

European Journal of Human Genetics : Ejhg, 2019

30809043 (PubMed )
Supplement: 41431_2019_362_MOESM2_ESM.xlsx › Combined_Scoring

Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction.

Tiosano D et al.

Plos Genetics, 2019

31034465 (PubMed )
Supplement: pgen.1008088.s007.xlsx › Sheet1
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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."