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Leiden Open Variation Database

Known as: LOVD 
The Leiden Open Variation Database (LOVD) is a free, flexible web-based open source database developed in the Leiden University Medical Center in the… 
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Papers overview

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2017
2017
Identification and verification of a pathogenic MLH1 mutation c.1145dupA in a Lynch syndrome family
Lynch syndrome (LS), an autosomal-dominant disorder with an increased risk of predominantly colorectal and endometrial cancers… 
2015
2015
The brittle and the unbreakable: an approach to mutations in collagen type I genes
Tercer premi del X Premi PRBB al millor treball de recerca en Ciencies de la Salut i de la Vida 
2012
2012
Gathering and Managing Genotype and Phenotype Information about Rare Diseases Patients
Information technology is increasingly present in medicine, and is emerging as a crucial tool both in clinical monitoring and… 
2012
2012
MitoLSDB: The Human Mitochondrial Locus Specific Database
Background: Human mitochondrial DNA (mtDNA) encodes a set of 37 genes which are essential structural and functional components of… 
Review
2011
Review
2011
Author ' s response to reviews Title : Breakpoint characterization of a novel large intragenic deletion of MUTYH detected in a MAP patient : Case report
1. The statement “Most MUTYH pathogenic variants are missense mutations, and currently, no gross genomic deletions have been… 
2010
2010
Germline APC mutation spectrum derived from 863 genomic variations identified through a 15-years medical genetics service to French FAP patients
Heterozygous APC germline alteration is responsible for familial adenomatous Polyposis, a colon cancer predisposition with almost… 
2010
2010
Acylation improved acyltransferase mediated LOVD
Un metodo para fabricar un compuesto de estatina, que comprende poner en contacto un sustrato de LovD aciltransferasa con una… 
2010
2010
LOVD polypeptide variants and their uses.
LOVD polypeptide variant having at least twice higher catalytic activity than the A. terreus acyltransferase wild type of SEQ ID… 
2010
2010
Mismatch-Reparatur-Gene als Modell für die LOVD (Leiden Open Variation Database) – Der ideale Lösungsansatz für den Umgang mit unklassifizierten Varianten
Introduction: The Human Variome Project (HVP) is the global community effort to collect, curate and make accessible information… 
2008
2008
OUTGOING NEWS HEADS APPOINT 68 TO NEXT YEAR ' S BOARD AND STAFF " PATIENCE " OPENS
The principals fur the operetta are as fo l lows : W i l l i a m Wi l l i ams , special student, as the Colonel Caverley ; W i l… 
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