Search Results - "Prevost, Lynne"
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PAHdb 2003: What a locus-specific knowledgebase can do
Published in Human mutation (01-04-2003)“…PAHdb, a legacy of and resource in genetics, is a relational locus‐specific database (http://www.pahdb.mcgill.ca). It records and annotates both pathogenic…”
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Charles Scriver: Epitome of the physician scientist
Published in Molecular genetics and metabolism (01-12-2022)“…Charles Scriver is a towering figure in the medical genetics community. At 92 he can look back upon a remarkable career that established the field of…”
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PAHdb: A locus-specific knowledgebase
Published in Human mutation (01-01-2000)“…PAHdb is an online relational locus‐specific “mutation database” (http://www.mcgill.ca/pahdb) for the human phenylalanine hydroxylase gene (symbol PAH) and its…”
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PAH Mutation Analysis Consortium Database: 1997. Prototype for relational locus-specific mutation databases
Published in Nucleic acids research (01-01-1998)“…PAHdb (http://www.mcgill.ca/pahdb) is a curated relational database (Fig. 1) of nucleotide variation in the human PAH cDNA (GenBank U49897). Among 328…”
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PAH Mutation Analysis Consortium Database: A Database for Disease-Producing and Other Allelic Variation at the Human PAH Locus
Published in Nucleic acids research (01-01-1996)“…The PAH Mutation Analysis Consortium (81 investigators, 26 countries) is engaged in mutation detection at the human PAH locus. Ascertainment of probands occurs…”
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The PAH mutation analysis consortium database: update 1996
Published in Nucleic acids research (01-01-1997)“…A website (http://www.mcgill.ca/pahdb ) is maintained by the curators for a Consortium (88 investigators, 28 countries) and all other users; it serves a…”
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