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Article

Targeted next-generation sequencing identified novel mutations associated with hereditary anemias in Brazil.

Annals of hematology - 1 May 2020

Svidnicki M C C M, Zanetta G K, Congrains-Castillo A, Costa F F, Saad S T O

Abstract excerpt

Hereditary anemias are a group of heterogeneous disorders including hemolytic anemias and hyporegenerative anemias, as congenital dyserythropoietic anemia (CDA). Causative mutations occur in a wide range of genes leading to deficiencies in red cell production, structure, or function. The genetic screening of the main genes is important for timely diagnosis, since routine laboratory tests fail in a percentage of...

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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: 32266426
DOI: 10.1007/s00277-020-03986-8
PMCID: PMC7241966

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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