Varaico: Literature-Extracted Genetic Variants

Gene:PTH1R
Variant:p.G121E
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PTH1R

NM_000316.3:p.G121E

Associated Papers

Somatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome.

Pansuriya TC et al.

Nature Genetics, 2011

Maffucci syndrome: a genome-wide analysis using high resolution single nucleotide polymorphism and expression arrays on four cases.

Pansuriya TC et al.

Genes, Chromosomes & Cancer, 2011

Genome-wide analysis of Ollier disease: Is it all in the genes?

Pansuriya TC et al.

Orphanet Journal of Rare Diseases, 2011

Enchondromatosis: insights on the different subtypes.

Pansuriya TC et al.

International Journal of Clinical and Experimental Pathology, 2010

PTHR1 mutations associated with Ollier disease result in receptor loss of function.

Couvineau A et al.

Human Molecular Genetics, 2008

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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."