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Frontiers | The Genotype and Phenotype of Proline-Rich Transmembrane Protein 2 Associated Disorders in Chinese Children
Defects in spliceosomal machinery: a new pathway of leukaemogenesis - Maciejewski - 2012 - British Journal of Haematology - Wiley Online Library
Genetic Variation among Major Human Geographic Groups Supports a Peculiar Evolutionary Trend in PAX9 | PLOS ONE
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JPM | Free Full-Text | Targeted RNAseq Improves Clinical Diagnosis of Very Early-Onset Pediatric Immune Dysregulation
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Two common disease-associated TYK2 variants impact exon splicing and TYK2 dosage
The type 1 diabetes gene TYK2 regulates β-cell development and its responses to interferon-α | Nature Communications
Alternative splicing of SP140 exon 7 carrying the rs28445040 C/T... | Download Scientific Diagram
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The Nt17 Domain and its Helical Conformation Regulate the Aggregation, Cellular Properties and Neurotoxicity of Mutant Huntingtin Exon 1 - ScienceDirect
IJMS | Free Full-Text | Tau Exon 10 Inclusion by PrPC through Downregulating GSK3β Activity
Two common disease-associated TYK2 variants impact exon splicing and TYK2 dosage | PLOS ONE
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