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Locus-specific variation databases | Genome variation analysis

Locus-Specific DataBases (LSDBs) store information on gene sequence variation associated with human phenotypes and are frequently used as a reference by researchers and clinicians.Source text:(Fokkema et al., 2011) LOVD v.2.0: the next generation in…
LOVD
Dataset

LOVD Leiden Open Variation Database

Provide a flexible, freely available tool for Gene-centered collection and…

Provide a flexible, freely available tool for Gene-centered collection and display of DNA variations. LOVD 3.0 extends this idea to also provide patient-centered data storage and storage of NGS data,…

EURO-WABB…
Dataset

EURO-WABB locus specific database

Provides catalogues of gene variations involved in monogenic diabetes…

Provides catalogues of gene variations involved in monogenic diabetes syndromes. The EURO-WABB locus specific database is an online resource that operates at a disease specific level to support…

LSDBs
Dataset

LSDBs Locus-Specific DataBases

Store information on gene sequence variation associated with human phenotypes…

Store information on gene sequence variation associated with human phenotypes and are frequently used as a reference by researchers and clinicians. Their most frequent use is in relation to DNA-based…

TREAT-NMD DMD…
Dataset

TREAT-NMD DMD Global Database

A joined international effort through the TREAT-NMD network to provide…

A joined international effort through the TREAT-NMD network to provide up-to-date information about mutations of the Duchenne muscular dystrophy (DMD) gene identified in patients with…

UMD TP53…
Dataset

UMD TP53 database

A reference for all scientists working on p53, including information on p53…

A reference for all scientists working on p53, including information on p53 structure and function, the description of all p53 monoclonal antibodies and the phylogenetic analysis of p53. More than…

UMD- APC
Dataset

UMD- APC

Provides information about mutations of the APC gene. The UMD- APC database…

Provides information about mutations of the APC gene. The UMD- APC database aims at making the information readily accessible to anyone interested in the genetic variations of the APC gene, and to…

amamutdb.no
Dataset

amamutdb.no alpha-mannosidosis mutation database

A publicly accessible online resource for recording and analyzing MAN2B1…

A publicly accessible online resource for recording and analyzing MAN2B1 variants. amamutdb.no offers structured and relational information on MAN2B1 mutations and genotypes along with associated…

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