Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Disease-causing mutations in the human genome.

European journal of pediatrics - 1 Dec 2000

Antonarakis S E, Krawczak M, Cooper D N

Abstract excerpt

UNLABELLED: A considerable number of gene mutations has now been reported in a total of more than 1000 different human genes. Data on these mutations and their associated phenotypes have been collated and are available online through two major databases: Online Mendelian Inheritance in Man in Baltimore and the Human Gene Mutation Database in Cardiff. Since the non-randomness of mutation is determined largely by...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to 5-Methylcytosine
Share to Cytosine
Share to Databases, Factual

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Gene Deletion

Share to Genome, Human

Share to Mutation

Source

Identifiers

PMID: 11216894
DOI: 10.1007/pl00014395

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Disease-causing mutations in the human genome.PMID 11216894Read ↗

Human Gene Mutation Database (HGMD): 2003 update.Semantic proximity Read ↗

The human genome: mutations.Semantic proximity Read ↗

Human DNA Mutations and their Impact on Genetic Disorders.Semantic proximity Read ↗

The Human Gene Mutation Database (HGMD) and its exploitation in the study of mutational mechanisms.Semantic proximity Read ↗

Mutation patterns in the human genome: more variable than expected.Semantic proximity Read ↗

The Human Gene Mutation Database (HGMD) and its exploitation in the fields of personalized genomics and molecular evolution.Semantic proximity Read ↗

[Mutation mechanisms and their consequences].Semantic proximity Read ↗

Structural variation mutagenesis of the human genome: Impact on disease and evolution.Semantic proximity Read ↗

Signatures of Mutational Processes in Human DNA EvolutionSemantic proximity Read ↗

Nomenclature for the description of human sequence variations.Semantic proximity Read ↗

C and G are frequently mutated into T and A in coding regions of human genes.Semantic proximity Read ↗

Human gene mutation database-a biomedical information and research resource.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.