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Biallelic deleterious germline SH2B3 variants cause a novel..:

Blombery, Piers ; Pazhakh, Vahid ; Albuquerque, Adriana S...
https://discovery.ucl.ac.uk/id/eprint/10170639/1/eJHaem%20-%202023%20-%20Blombery%20-%20Biallelic%20deleterious%20germline%20SH2B3%20variants%20cause%20a%20novel%20syndrome%20of%20myeloproliferation%20and.pdf.  , 2023