Data sharing and gene variant databases

Author:

den Dunnen Johan T.,Fokkema Ivo F.A.C.

Publisher

Elsevier

Reference40 articles.

1. HGVS recommendations for the description of sequence variants: 2016 update;den Dunnen;Hum Mutat,2016

2. Theoretic applicability of antisense-mediated exon skipping for Duchenne muscular dystrophy mutations;Aartsma-Rus;Hum Mutat,2009

3. OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders;Amberger;Nucleic Acids Res,2015

4. Expansion of the human phenotype ontology (HPO) knowledge base and resources;Köhler;Nucleic Acids Res,2019

5. Variation across 141,456 human exomes and genomes reveals the spectrum of loss-of-function intolerance across human protein-coding genes;Karczewski;BioRxiv,2019

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