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 › S3__MITNGS_S3_
Feeding difficulty is the dominant feature in 12 Chinese newborns with CHD7 pathogenic variants.
Chen X et al.
Bmc Medical Genetics, 2019
31146700 (PubMed )
Supplement: 12881_2019_813_MOESM1_ESM.xls › CHD7_ChenXiang_query_Report_Fil
A double mutation in AGXT gene in families with primary hyperoxaluria type 1.
Kanoun H et al.
Gene, 2013
Primary hyperoxaluria type 1: update and additional mutation analysis of the AGXT gene.
Williams EL et al.
Human Mutation, 2009
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