Associated Papers
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
41727046 (PubMed )
Supplement: media-7.xlsx › VarChAMP_data_supp_mat_PP
Recessive genomic and phenotypic variation in consanguineous families with cerebral palsy.
Bisarad P et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
41282771 (PubMed )
Supplement: media-1.xlsx › Supplementary_Table_3
Phenotypic and molecular spectrum of Korean patients with Lesch-Nyhan syndrome and attenuated clinical variants.
Cho JH et al.
Metabolic Brain Disease, 2019
Prenatal diagnosis based on HPRT1 gene mutation in a Lesch-Nyhan family.
Liu N et al.
Journal of Obstetrics and Gynaecology : the Journal of the Institute of Obstetrics and Gynaecology, 2015
Genotype-phenotype correlations in neurogenetics: Lesch-Nyhan disease as a model disorder.
Fu R et al.
Brain : a Journal of Neurology, 2014
Genotype-phenotype correlations in Lesch-Nyhan disease: moving beyond the gene.
Fu R et al.
The Journal of Biological Chemistry, 2012
Hypoxanthine guanine phosphoribosyltransferase (HPRT) mutations in the Asian population.
Yamada Y et al.
Nucleosides, Nucleotides & Nucleic Acids, 2011
Molecular analysis of two enzyme genes, HPRT1 and PRPS1, causing X-linked inborn errors of purine metabolism.
Yamada Y et al.
Nucleosides, Nucleotides & Nucleic Acids, 2010
Hypoxanthine-guanine phosphoribosylotransferase deficiency--the spectrum of Polish mutations.
Jurecka A et al.
Journal of Inherited Metabolic Disease, 2008
Type and level of RMRP functional impairment predicts phenotype in the cartilage hair hypoplasia-anauxetic dysplasia spectrum.
Thiel CT et al.
American Journal of Human Genetics, 2007
International Commission for Protection Against Environmental Mutagens and Carcinogens. Working paper no. 3. Somatic mutant frequency, mutation rates and mutational spectra in the human population in vivo.
Cole J et al.
Mutation Research, 1994
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