NF1 patient missense variants predict a role for ATM in modifying neurofibroma initiation | Acta Neuropathologica
Rhodoquinone biosynthesis in C. elegans requires precursors generated by the kynurenine pathway | eLife
10 Mutant Genes That Could Make You Superhuman - Listverse
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Patrick Essletzbichler - Predoctoral Fellow - CeMM | LinkedIn
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Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability | Molecular Psychiatry
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Frontiers | Evolution and Developmental System Drift in the Endoderm Gene Regulatory Network of Caenorhabditis and Other Nematodes
Frontiers | Comprehensive Cis-Regulation Analysis of Genetic Variants in Human Lymphoblastoid Cell Lines
Phenotypic heterogeneity in human genetic diseases: ultrasensitivity-mediated threshold effects as a unifying molecular mechanism | Journal of Biomedical Science | Full Text
Natural Variation in Gene Expression Modulates the Severity of Mutant Phenotypes - ScienceDirect
Paralog buffering contributes to the variable essentiality of genes in cancer cell lines | PLOS Genetics
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Frontiers | CFTR Modulators: Shedding Light on Precision Medicine for Cystic Fibrosis
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The background puzzle: how identical mutations in the same gene lead to different disease symptoms - Kammenga - 2017 - The FEBS Journal - Wiley Online Library
Marina Pajkić (@makyfitgirl) | TikTok
Marina Pajkić (@makyfitgirl) | TikTok
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Alternative splicing of COQ-2 determines the choice between ubiquinone and rhodoquinone biosynthesis in helminths | bioRxiv
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The impact of the genetic background on gene deletion phenotypes in Saccharomyces cerevisiae | Molecular Systems Biology
