Associated Papers
KLHL24 associated cardiomyopathy: Gene function to clinical management.
Johnson N et al.
Gene, 2025
Variants in the first methionine of RAD51C are homologous recombination proficient due to an alternative start site.
Rein HL et al.
Dna Repair, 2024
Succinate dehydrogenase variants in paraganglioma: why are B subunit variants 'bad'?
Gruber LM et al.
Endocrine Oncology (bristol, England), 2023
37434649 (PubMed )
Supplement: supplementary_table_1.xlsx › Missense_Variants
Prime editing optimized RTT permits the correction of the c.8713C>T mutation in DMD gene.
Happi Mbakam C et al.
Molecular Therapy. Nucleic Acids, 2022
DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency.
Logan CV et al.
American Journal of Human Genetics, 2018
30503519 (PubMed )
Supplement: mmc2.pdf
Iron-sulfur cluster biosynthesis and trafficking - impact on human disease conditions.
Wachnowsky C et al.
Metallomics : Integrated Biometal Science, 2018
Varicella-zoster virus ORF49 functions in the efficient production of progeny virus through its interaction with essential tegument protein ORF44.
Sadaoka T et al.
Journal of Virology, 2014
Prenatal diagnosis of respiratory chain deficiency by direct mutation screening.
Amiel J et al.
Prenatal Diagnosis, 2001
The C-terminal sequence of the lambda holin constitutes a cytoplasmic regulatory domain.
Bläsi U et al.
Journal of Bacteriology, 1999
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