Associated Papers
Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels.
Kanavy DM et al.
Genome Medicine, 2019
31783775 (PubMed )
Supplement: 13073_2019_683_MOESM2_ESM.xlsx › Table_S1_CDH1_A
Bending of DNA duplexes with mutation motifs.
Růžička M et al.
Dna Research : an International Journal for Rapid Publication of Reports on Genes and Genomes, 2019
Molecular epidemiology and genotype-phenotype correlation in phenylketonuria patients from South Spain.
Bueno MA et al.
Journal of Human Genetics, 2013
PAHdb 2003: what a locus-specific knowledgebase can do.
Scriver CR et al.
Human Mutation, 2003
Large de novo deletion in chromosome 12 affecting the PAH, IGF1, ASCL1, and TRA1 genes.
Mallolas J et al.
Journal of Molecular Medicine (berlin, Germany), 2001
A de novo phenylketonuria mutation: ATG (Met) to ATA (Ile) in the start codon of the phenylalanine hydroxylase gene.
Eiken HG et al.
Human Mutation, 1992
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