Associated Papers
Clinical Implementation of Rare and Novel DPYD Variants for Personalizing Fluoropyrimidine Treatment: Challenges and Opportunities.
De Mattia E et al.
International Journal of Biological Sciences, 2024
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
The New Immortalized Uroepithelial Cell Line HBLAK Contains Defined Genetic Aberrations Typical of Early Stage Urothelial Tumors.
Hoffmann MJ et al.
Bladder Cancer (amsterdam, Netherlands), 2016
28035326 (PubMed )
Supplement: blc-2-blc160065-s001.xlsx › 2_HBLAK_relevant_SNPs
A G613A missense in the Hutchinson's progeria lamin A/C gene causes a lone, autosomal dominant atrioventricular block.
Villa F et al.
Immunity & Ageing : I & A, 2014
25469153 (PubMed )
Supplement: 12979_2014_19_MOESM2_ESM.xls › Sheet1
Clinical features and new molecular findings in muscle phosphofructokinase deficiency (GSD type VII).
Musumeci O et al.
Neuromuscular Disorders : Nmd, 2012
[Type VII glycogen storage disease].
Nakajima H et al.
Ryoikibetsu Shokogun Shirizu, 1998
Phosphofructokinase deficiency: recent advances in molecular biology.
Nakajima H et al.
Muscle & Nerve. Supplement, 1995
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