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Details on Person Compound heterozygosity for 2 novel TMEM16F mutations in a patient with Scott syndrome

Class:Id	LiteratureReference:9853851
_displayName	Compound heterozygosity for 2 novel TMEM16F mutations in a patient with Scott syndrome
_timestamp	2023-11-21 10:33:28
author	[Person:9853803] Castoldi, Elisabetta [Person:9844279] Collins, Peter W [Person:9853843] Williamson, Patrick L [Person:9853820] Bevers, Edouard M
created	[InstanceEdit:9853845] Shamovsky, Veronica, 2023-11-21
journal	Blood
pages	4399-400
pubMedIdentifier	21511967
title	Compound heterozygosity for 2 novel TMEM16F mutations in a patient with Scott syndrome
volume	117
year	2011
(literatureReference)	[Pathway:9853846] Defective ANO6 does not expose PS, PE on the platelet membrane [Homo sapiens] [FailedReaction:9853849] Defective ANO6 does not expose PS, PE on the platelet membrane [Homo sapiens] [DefinedSet:9853844] ANO6 variant [plasma membrane] [Homo sapiens] [Summation:9854626] In healthy individuals, anoctamin-6 (ANO6, also known as TME... [Summation:9930868] This Reactome event describes the defective scramblase activ...
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