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Missense mutation
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Current data, viewed at
Yearly
resolution.
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Keyword
keyword
Missense mutation
RIS
0.001
(Research Intensity Score)
Papers
117
Top papers
Glucose-6-phosphate dehydrogenase deficiency
2020 · 401 citations
Variation of a major facilitator superfamily gene contributes to differential cadmium accumulation between rice subspecies
2019 · 308 citations
Molecular heterogeneity and CXorf67 alterations in posterior fossa group A (PFA) ependymomas
2018 · 270 citations
Long Term Follow-up and Combined Phase 2 Results of Eprenetapopt (APR-246) and Azacitidine (AZA) in Patients with TP53 mutant Myelodysplastic Syndromes (MDS) and Oligoblastic Acute Myeloid Leukemia (AML)
2021 · 41 citations
Structurally Oriented Classification of FOXA1 Alterations Identifies Prostate Cancers with Opposing Clinical Outcomes and Distinct Molecular and Immunologic Subtypes
2025 · 11 citations
Newest papers
From development to disease:Cellular models of hematopoiesis and platelet disorders
2026
Novel deep intronic variant in CLCN1 causing autosomal recessive myotonia congenita
2026
Sex-specific genotype-phenotype landscape and prevalence of CASK -related disorder
2026
Comprehensive characterization and translational implications of the GalnsR384C mouse model of Mucopolysaccharidosis IVA
2026
Clinical significance of SQSTM1 variants in ALS: report of p.Arg119Cys and literature review
2026
A sample from the 100 top papers behind Missense mutation.
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