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Description
91 De GennaN
R169Q, R169P and R169W are all variants associated with SPCD 11 , all of which we hypothesise affect the positioning of both D165 and E220, and subsequently the gating interaction between R459 and E220
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Zinc L-Carnosine
Anticoagulants act as vitamin K antagonists and prevent the synthesis of some clotting factors
Neurological and biochemical testing Neurological and biochemical characteristics of the patients are given in Supplementary Table 2
