Germline Missense Variants in SH2B3 Underpin Platelet Count Variation and Inherited MPN
Liesl Butler, Christine U. Lee, Graham William Magor, Rhiannon Morris et autres
Background:BCR-ABL-negative MPNs arise from mutations that dysregulate JAK-STAT signalling. SH2B3 encodes LNK, a key negative regulator of this pathway [1]. Somatic loss of function mutations and missense variants in SH2B3 occur in MPNs [2]. Aim: To validate missense germline SH2B3 variants as …
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