Associated Papers
Background splicing as a predictor of aberrant splicing in genetic disease.
Alexieva D et al.
Rna Biology, 2022
35188075 (PubMed )
Supplement: KRNB_A_2024031_SM7960.zip › Supplementary_information › Table_S2_css.xlsx › DBASS3_index
Cryptic intronic NBAS variant reveals the genetic basis of recurrent liver failure in a child.
Rius R et al.
Molecular Genetics and Metabolism, 2019
A fatal case of mitochondrial DNA depletion syndrome with novel compound heterozygous variants in the deoxyguanosine kinase gene.
Fang W et al.
Oncotarget, 2017
Mitochondrial depletion syndromes in children and adults.
Finsterer J et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2013
Founder mutations in Tunisia: implications for diagnosis in North Africa and Middle East.
Romdhane L et al.
Orphanet Journal of Rare Diseases, 2012
22908982 (PubMed )
Supplement: 1750-1172-7-52-S2.xlsx › Feuil1
The first founder DGUOK mutation associated with hepatocerebral mitochondrial DNA depletion syndrome.
Brahimi N et al.
Molecular Genetics and Metabolism, 2009
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