Associated Papers
Combined MITOchondrial-NUCLEAR (MITO-NUCLEAR) Analysis for Mitochondrial Diseases Diagnosis: Validation and Implementation of a One-Step NGS Method.
Barretta F et al.
Genes, 2023
37239447 (PubMed )
Supplement: genes-14-01087-s001.zip › Supplementary_Table_S1_S1.xlsx › CASE_REPORT___MITNGS22_03_
Sources of discordance among germ-line variant classifications in ClinVar.
Yang S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
28569743 (PubMed )
Supplement: gim201760x7.xlsx › table_all_ExAC_consensus_Oct201
A novel frameshift mutation in the AFG3L2 gene in a patient with spinocerebellar ataxia.
Musova Z et al.
Cerebellum (london, England), 2014
Spinocerebellar ataxia type 28 (SCA28) is an uncommon cause of dominant ataxia among Chinese kindreds.
Jia D et al.
The International Journal of Neuroscience, 2012
Early onset and slow progression of SCA28, a rare dominant ataxia in a large four-generation family with a novel AFG3L2 mutation.
Edener U et al.
European Journal of Human Genetics : Ejhg, 2010
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