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Showing 1 - 13 of 30

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Role of ADAMTS13, VWF and F8 genes in deep vein thrombosis

Maria Teresa Pagliari, Andrea Cairo,  [ ... ], Flora Peyvandi

Novel genetic variants of inborn errors of immunity

Farida Almarzooqi, Abdul-Kader Souid, Ranjit Vijayan, Suleiman Al-Hammadi

SVAD: A genetic database curates non-ischemic sudden cardiac death-associated variants

Wei-Chih Huang, Hsin-Tzu Huang,  [ ... ], Hsien-Da Huang

MISTIC: A prediction tool to reveal disease-relevant deleterious missense variants

Kirsley Chennen, Thomas Weber,  [ ... ], Olivier Poch

Clinical interpretation of variants identified in RNU4ATAC, a non-coding spliceosomal gene

Clara Benoit-Pilven, Alicia Besson,  [ ... ], Sylvie Mazoyer

Phenogenon: Gene to phenotype associations for rare genetic diseases

Nikolas Pontikos, Cian Murphy,  [ ... ], UK Inherited Retinal Dystrophy Consortium, Phenopolis Consortium

Whole genome sequencing and rare variant analysis in essential tremor families

Zagaa Odgerel, Shilpa Sonti,  [ ... ], Lorraine N. Clark

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