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Article

Genotype-based databases for variants causing rare diseases.

Gene - 15 Oct 2014

Lanthaler Barbara, Wieser Stefanie, Deutschmann Andrea, Schossig Anna, Fauth Christine, Zschocke Johannes, Witsch-Baumgartner Martina

Abstract excerpt

Inherited diseases are the result of DNA sequence changes. In recessive diseases, the clinical phenotype results from the combined functional effects of variants in both copies of the gene. In some diseases there is often considerable variability of clinical presentation or disease severity, whic...

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Source

Identifiers

PMID: 25111118
DOI: 10.1016/j.gene.2014.08.016

Genes

ABCA1
DHCR7
ACAD8
ACADSB
APOE
AUH
FKBP14
HMGCS2
ROGDI

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25111118-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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