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Article

A functional assay for the clinical annotation of genetic variants of uncertain significance in Diamond-Blackfan anemia.

Human mutation - 1 Aug 2018

Aspesi Anna, Betti Marta, Sculco Marika, Actis Chiara, Olgasi Cristina, Wlodarski Marcin W, Vlachos Adrianna, Lipton Jeffrey M, Ramenghi Ugo, Santoro Claudio, Follenzi Antonia, Ellis Steven R, Dianzani Irma

Abstract excerpt

Diamond-Blackfan anemia (DBA) is a rare genetic hypoplasia of erythroid progenitors characterized by mild to severe anemia and associated with congenital malformations. Clinical manifestations in DBA patients are quite variable and genetic testing has become a critical factor in establishing a diagnosis of DBA. The majority of DBA cases are due to heterozygous loss-of-function mutations in ribosomal protein (RP)...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 29766597
DOI: 10.1002/humu.23551
PMCID: PMC6055729

Genes

RPS19

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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