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Article

Whole-Genome-Sequence-Based Haplotypes Reveal Single Origin of the Sickle Allele during the Holocene Wet Phase.

American journal of human genetics - 5 Apr 2018

Shriner Daniel, Rotimi Charles N

Abstract excerpt

Five classical designations of sickle haplotypes are made on the basis of the presence or absence of restriction sites and are named after the ethno-linguistic groups or geographic regions from which the individuals with sickle cell anemia originated. Each haplotype is thought to represent an independent occurrence of the sickle mutation rs334 (c.20A>T [p.Glu7Val] in HBB). We investigated the origins of the...

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Source

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Identifiers

PMID: 29526279
DOI: 10.1016/j.ajhg.2018.02.003
PMCID: PMC5985360

Genes

HBB

Variants

rs334

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.

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