Genetic evidence for predisposition to acute leukemias due to a missense mutation (p.Ser518Arg) in ZAP70 kinase: a case-control study.

doi:10.1186/s12920-024-01961-0

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Article

Genetic evidence for predisposition to acute leukemias due to a missense mutation (p.Ser518Arg) in ZAP70 kinase: a case-control study.

BMC medical genomics - 7 Aug 2024

Khashei Varnamkhasti Khalil, Khashei Varnamkhasti Samire, Shahrouzian Atefeh, Rahimzadeh Masoomeh, Naeimi Leila, Naeimi Behrouz, Naeimi Sirous

Abstract excerpt

BACKGROUND: The apparent lack of additional missense mutations data on mixed-phenotype leukemia is noteworthy. Single amino acid substitution by these non-synonymous single nucleotide variations can be related to many pathological conditions and may influence susceptibility to disease. This case-control study aimed to unravel whether the ZAP70 missense variant (rs104893674 (C > A)) underpinning mixed-phenotype...

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Share to Leukemia, Myeloid, Acute

Share to Mutation, Missense

Share to Polymorphism, Single Nucleotide

Share to Precursor Cell Lymphoblastic Leukemia-Lymphoma

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Share to ZAP-70 Protein-Tyrosine Kinase

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Identifiers

PMID: 39113054
DOI: 10.1186/s12920-024-01961-0
PMCID: PMC11308335

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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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