C4510605_SNOMEDCT_US | Knowledge4COVID-19

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?:definition	The combination of a propensity for venous thrombosis and seizures has been reported in two unrelated kindreds. Transmission is autosomal recessive. It results from a point mutation of PIGM, which reduces transcription of PIGM and blocks mannosylation of glycosylphosphatidylinositol (GPI), leading to partial but severe deficiency of GPI.
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?:type	<https://research.tib.eu/covid-19/vocab/AnnotationDefinition>

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