Varaico: Literature-Extracted Genetic Variants

Gene:PTH1R
Variant:p.A122T
Back to variants list

PTH1R

NM_000316.3:p.A122T

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

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."