A Novel Homozygous Truncating <i>CD8A</i> Variant (p.Arg107Ter) in a Patient with Recurrent Sinopulmonary Infections: A Case Report and Literature Review. [PDF]
Healthcare (Basel)Asseri AA +4 more
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GenBlosum: On Determining Whether Cancer Mutations Are Functional or Random. [PDF]
Genes (Basel)Leyva A, Khan Niazi MK.
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Characterization of a novel MSH2 variant in Lynch syndrome: clinical data and complementary bioinformatics assessment. [PDF]
Einstein (Sao Paulo)Chami AM +5 more
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Role of the anti-Shine-Dalgarno sequence of 16S rRNA in Flavobacterium johnsoniae. [PDF]
Nucleic Acids ResNaeem FM +9 more
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Database of <i>CLCN5</i> Pathogenic Variants Causing Dent Disease. [PDF]
Kidney Int RepLyu P +7 more
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Functional Validation of a Novel Deep Intronic <i>IMPG2</i> Variant Causing Pseudoexon Activation in Retinitis Pigmentosa with Macular Involvement. [PDF]
Appl Clin GenetZheng G +6 more
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The regulation, function and disease relevance of cytoplasmic tRNAs. [PDF]
Nat Rev Mol Cell BiolStanley RE, Lowe TM, Ignatova Z.
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A novel heterozygous pathogenic variation in the <i>MECP2</i> gene causing typical Rett syndrome: a case report. [PDF]
Transl PediatrZheng Y +5 more
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Epigenetic, Genetic, and Functional Germline Alterations of <i>PAX</i> Genes in Human Pathology: A Comprehensive Update. [PDF]
Curr Issues Mol BiolGomez VL +10 more
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