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Article

MobiDetails: online DNA variants interpretation.

European journal of human genetics : EJHG - 1 Feb 2021

Baux David, Van Goethem Charles, Ardouin Olivier, Guignard Thomas, Bergougnoux Anne, Koenig Michel, Roux Anne-Françoise

Abstract excerpt

MobiDetails is an expert tool, online application which gathers useful data for the interpretation of DNA variants in the context of molecular diagnosis. It brings together in a single tool many sources of data, such as population genetics, various kinds of predictors, Human Genome Variation Society (HGVS) nomenclatures, curated databases, and access to various annotations. Accurate interpretation of DNA variants...

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Identifiers

PMID: 33161418
DOI: 10.1038/s41431-020-00755-z
PMCID: PMC7868358

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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