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Academic Journal

Identification of positions in human aldolase a that are neutral for apparent KM.

Subjects: *PROTEIN structure; *MISSENSE mutation; *DATABASES

  • Source: Archives of Biochemistry & Biophysics. Nov2024, Vol. 761, pN.PAG-N.PAG. 1p.

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Academic Journal

Phenotyping of FGF12AV52H mutation in mouse implies a complex FGF12 network.

Subjects: *MISSENSE mutation; *ION channels; *NEURONAL differentiation

  • Source: Neurobiology of Disease. Oct2024, Vol. 200, pN.PAG-N.PAG. 1p.

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Academic Journal

Genotype–phenotype findings in patients with mucopolysaccharidosis II from the Hunter Outcome Survey.

Subjects: *LYSOSOMAL storage diseases; *MISSENSE mutation; *COGNITION disorders

  • Source: Molecular Genetics & Metabolism. Sep2024, Vol. 143 Issue 1/2, pN.PAG-N.PAG. 1p.

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Academic Journal

eP119 - A PRPH2 arginine missense mutation in central areolar choroidal dystrophy with phenotypic variability among family members.

Subjects: *PHENOTYPIC plasticity; *MISSENSE mutation; *DYSTROPHY

  • Source: Molecular Genetics & Metabolism. 2021 Supplement 1, Vol. 132, pS80-S81. 2p.

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Academic Journal

Significance of utilizing in silico structural analysis and phenotypic data to characterize phenylalanine hydroxylase variants: A PAH landscape.

Subjects: *MISSENSE mutation; *MEDICAL genetics; *PHENYLALANINE

  • Source: Molecular Genetics & Metabolism. Jul2024, Vol. 142 Issue 3, pN.PAG-N.PAG. 1p.

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SOLVENT ACCESSIBILITY OF E1α AND E1β RESIDUES WITH KNOWN MISSENSE MUTATIONS CAUSING PYRUVATE DEHYDROGENASE COMPLEX (PDC) DEFICIENCY: IMPACT ON PDC-E1 STRUCTURE AND FUCNTION AND SMALL MOLECULE THERAPEUTIC OPTIONS FOR THIS DISORDER.

Subjects: *PYRUVATE dehydrogenase complex; *MISSENSE mutation; *SMALL molecules

  • Source: Molecular Genetics & Metabolism. Apr2022, Vol. 135 Issue 4, p268-269. 2p.

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Academic Journal

Biochemical and cellular effects of a novel missense mutation of the AGXT gene associated with Primary Hyperoxaluria Type 1.

Subjects: *MISSENSE mutation; *GENETIC mutation; *VITAMIN B6

  • Source: Biochemical & Biophysical Research Communications. Feb2023, Vol. 645, p118-123. 6p.

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Academic Journal

68 LRBA dysfunction: a new diagnostic entity caused by biallelic LRBA missense variants results in reduced CTLA-4 expression and autoimmunity.

Subjects: *MISSENSE mutation; *CYTOTOXIC T lymphocyte-associated molecule-4; *AUTOIMMUNITY

  • Source: Clinical Immunology. 2024 Supplement, Vol. 262, pN.PAG-N.PAG. 1p.

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Academic Journal

Assessing the functional impact of ASL missense variants using high throughput yeast assays.

Subjects: *MISSENSE mutation

  • Source: Molecular Genetics & Metabolism. Apr2024, Vol. 141 Issue 4, pN.PAG-N.PAG. 1p.

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Academic Journal

Impact of genetic and non-genetic factors on phenotypic diversity in NBAS-associated disease.

Subjects: *MISSENSE mutation; *PHENOTYPES; *EMERGENCY management

  • Source: Molecular Genetics & Metabolism. Mar2024, Vol. 141 Issue 3, pN.PAG-N.PAG. 1p.

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  • 1-10 of  536 results for ""MISSENSE mutation""