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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Rare Diseases

Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 3 (of 3 Records)

Query Trace: Familial Platelet Disorder With Associated Myeloid Malignancy[original query]
A novel RUNX1 exon 3 - 7 deletion causing a familial platelet disorder.
Platelets 2021 2 33 (2): 320-323.
Almazni Ibrahim, Chudakou Pavel, Dawson-Meadows Alison, Downes Kate, Freson Kathleen, Mason Joanne, Page Paula, Reay Kim, Myers Bethan, Morgan Neil V,
The clinical phenotype of germline RUNX1 mutations in relation to the accompanying somatic variants and RUNX1 isoform expression.
Genes, chromosomes & cancer 2023 6 .
David Cabrerizo Granados, Indira Barbosa, Panagiotis Baliakas, Eva Hellström-Lindberg, Vanessa Lund
Germline RUNX1 variants in paediatric patients in a French specialised centre.
EJHaem 2023 2 4 (1): 145-152.
Liu Cécile, Ballerini Paola, Nguyen Guillaume, Mincheva Zoia, Copin Bruno, Bouslama Boutheina, Leverger Guy, Petit Arnaud, Favier Rémi, Lapillonne Hélène, Boutroux Hélè
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