Associated Papers
A gene pathogenicity tool "GenePy" identifies missed biallelic diagnoses in the 100,000 Genomes Project.
Seaby EG et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024
38245859 (PubMed )
Supplement: NIHMS2042813-supplement-Supplemental_Results.xlsx › Middle_priority
Recurrent aphthous stomatitis and gene variability in selected interleukins: a case-control study.
Borilova Linhartova P et al.
European Journal of Oral Sciences, 2018
Risk factors associated with inhibitor development in Chinese patients with haemophilia B.
Zhou J et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2015
Rapid scanning of myotubularin (MTM1) gene by denaturing high-performance liquid chromatography (DHPLC).
Flex E et al.
Neuromuscular Disorders : Nmd, 2002
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