Varaico: Literature-Extracted Genetic Variants

Gene:PTH1R
Variant:p.R255H
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PTH1R

NM_000316.3:p.R255H

Associated Papers

Primary failure of tooth eruption: Etiology and management.

Yamaguchi T et al.

The Japanese Dental Science Review, 2022

A novel homozygous PTH1R variant identified through whole-exome sequencing further expands the clinical spectrum of primary failure of tooth eruption in a consanguineous Saudi family.

Jelani M et al.

Archives of Oral Biology, 2016

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

Symmetrical enchondromatosis is associated with duplication of 12p11.23 to 12p11.22 including PTHLH.

Collinson M et al.

American Journal of Medical Genetics. Part A, 2010

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

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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