Associated Papers
Integration of metabolomic and genetic data reveals novel variants underpinning the human metabolome: the Coronary Artery Risk Development in Young Adults (CARDIA) study.
Krishnan M et al.
Medrxiv : the Preprint Server for Health Sciences, 2026
41646814 (PubMed )
Supplement: media-2.xlsx › TableS8
Genetic modifiers of long-term survival in sickle cell anemia.
Wonkam A et al.
Clinical and Translational Medicine, 2020
32898326 (PubMed )
Supplement: CTM2-10-e152-s001.pdf
A novel in-frame mutation in CLN3 leads to Juvenile neuronal ceroid lipofuscinosis in a large Pakistani family.
Sher M et al.
The International Journal of Neuroscience, 2019
30892110 (PubMed )
Supplement: supplement_1.xlsx › _Variants_305__Sequence_Ontolo
Whole exome sequencing in three families segregating a pediatric case of sarcoidosis.
Calender A et al.
Bmc Medical Genomics, 2018
29510755 (PubMed )
Supplement: 12920_2018_338_MOESM6_ESM.xlsx › T1
NGS in argininosuccinic aciduria detects a mutation (D145G) which drives alternative splicing of ASL: a case report study.
Wen W et al.
Bmc Medical Genetics, 2016
26843370 (PubMed )
Supplement: 12881_2016_273_MOESM1_ESM.xlsx › Sheet1
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