Associated Papers
Tumor DNA from tumor in situ fluid was used to track evolution of glioma under first-line treatment.
Yu J et al.
Frontiers in Oncology, 2025
41179686 (PubMed )
Supplement: Table2.xls › Sheet1
Case report: Genetic analysis of a novel intronic inversion variant in the SPTB gene associated with hereditary spherocytosis.
Xi B et al.
Frontiers in Genetics, 2023
38111681 (PubMed )
Supplement: Table1.pdf
Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.
Unknown Author
Genome Biology, 2015
26112015 (PubMed )
Supplement: 13059_2015_693_MOESM3_ESM.xls › Sheet1
False-positive accumulation of metaiodobenzylguanidine in a case with acute intermittent porphyria.
Masuda T et al.
Internal Medicine (tokyo, Japan), 2011
Nine mutations including three novel mutations among Russian patients with acute intermittent porphyria.
Pischik E et al.
Human Mutation, 2005
Non-erythroid form of acute intermittent porphyria caused by promoter and frameshift mutations distant from the coding sequence of exon 1 of the HMBS gene.
Whatley SD et al.
Human Genetics, 2000
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