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Missense mutation
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Keyword
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Missense mutation
RIS
0.001
(Research Intensity Score)
Papers
81
Top papers
Glucose-6-phosphate dehydrogenase deficiency
2020 · 401 citations
Structurally Oriented Classification of FOXA1 Alterations Identifies Prostate Cancers with Opposing Clinical Outcomes and Distinct Molecular and Immunologic Subtypes
2025 · 11 citations
EMD missense variant causes X-linked isolated dilated cardiomyopathy with myocardial emerin deficiency
2025 · 9 citations
A Multicenter Study of Hereditary Transthyretin Amyloidosis in China
2025 · 9 citations
Variant‐Specific Late Gadolinium Enhancement Patterns Influence Clinical Outcomes in LMNA ‐Related Cardiomyopathy
2025 · 6 citations
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
Functional Assessment of a Constitutively Activating CASR Variant Causing Autosomal Dominant Hypocalcaemia
2026
Wiskott-Aldrich syndrome: clinical, immunological, and genetic characterization of the first Moroccan cohort
2026
Newest papers
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
Functional Assessment of a Constitutively Activating CASR Variant Causing Autosomal Dominant Hypocalcaemia
2026
Wiskott-Aldrich syndrome: clinical, immunological, and genetic characterization of the first Moroccan cohort
2026
Trafficking Deficiency of TMEM175 Variants in Parkinson's Disease Pathogenesis and the Prospects of Precision Medicine
2026
Dynamic structural profiling of PINK1 mutations (T313M and L347P) reveals a vital molecular perturbation namely phospho-Serine 65 ubiquitin recognition point in mitophagy mediated autosomal recessive Parkinson’s disease (ARPD)
2026
Novel pathogenic CTLA4 missense variant associated with autoimmune enteropathy and systemic immune dysregulation
2026
p53-R280S mutation confers lenvatinib resistance in hepatocellular carcinoma via Bcl-2-mediated anti-apoptotic signaling
2026
Experimental evolution reveals genetic and transcriptomic mechanisms underlying benzalkonium chloride tolerance and fluoroquinolone cross-resistance in Listeria monocytogenes
2026
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