Associated Papers
Lip cyanosis as the first symptom of Leigh syndrome associated with mitochondrial complex I deficiency due to a compound heterozygous NDUFS1 mutation: A case report.
Men L et al.
Medicine, 2022
[Compound heterozygous NDUFS1 variants identified in a Chinese pedigree affected with mitochondrial respiratory chain complex I deficiency].
Gao C et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2021
Diagnostic Yields of Trio-WES Accompanied by CNVseq for Rare Neurodevelopmental Disorders.
Gao C et al.
Frontiers in Genetics, 2019
Aggressive natural killer-cell leukemia mutational landscape and drug profiling highlight JAK-STAT signaling as therapeutic target.
Dufva O et al.
Nature Communications, 2018
29674644 (PubMed )
Supplement: 41467_2018_3987_MOESM6_ESM.xlsx › NKTCL_L14
Exome sequencing of serous endometrial tumors identifies recurrent somatic mutations in chromatin-remodeling and ubiquitin ligase complex genes.
Le Gallo M et al.
Nature Genetics, 2012
23104009 (PubMed )
Supplement: NIHMS412622-supplement-3.xls › Supplementary_Table_4
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