Associated Papers
Activated leukocyte cell adhesion molecule/cluster of differentiation 166 rs10933819 (G>A) variant is associated with familial intracranial aneurysms.
Aitkulova A et al.
Biomedical Reports, 2022
35815187 (PubMed )
Supplement: Supplementary_Data.xlsx › 713_shortlisted_variants
Novel mutations in the PHKB gene in an iranian girl with severe liver involvement and glycogen storage disease type IX: a case report and review of literature.
Beyzaei Z et al.
Bmc Pediatrics, 2021
Liver histology in children with glycogen storage disorders type VI and IX.
Degrassi I et al.
Digestive and Liver Disease : Official Journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver, 2021
Analysis of protein-coding genetic variation in 60,706 humans.
Lek M et al.
Nature, 2016
27535533 (PubMed )
Supplement: NIHMS798561-supplement-supp_table19.xlsx › SI_Table_19
Exome sequencing of a family with lone, autosomal dominant atrial flutter identifies a rare variation in ABCB4 significantly enriched in cases.
Maciąg A et al.
Bmc Genetics, 2015
25888430 (PubMed )
Supplement: 12863_2015_177_MOESM1_ESM.xls › Sheet1
Exome sequencing identifies potential risk variants for Mendelian disorders at high prevalence in Qatar.
Rodriguez-Flores JL et al.
Human Mutation, 2014
Glycogen storage disease type IX: High variability in clinical phenotype.
Beauchamp NJ et al.
Molecular Genetics and Metabolism, 0
Complex patterns of inheritance, including synergistic heterozygosity, in inborn errors of metabolism: Implications for precision medicine driven diagnosis and treatment.
Vockley J et al.
Molecular Genetics and Metabolism, 0
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