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Details on Person A new mutation of ANO6 in two familial cases of Scott syndrome

Class:Id	LiteratureReference:9854633
_displayName	A new mutation of ANO6 in two familial cases of Scott syndrome
_timestamp	2023-11-28 06:58:59
author	[Person:9854624] Boisseau, Pierre [Person:9854665] Bene, Marie C [Person:9854634] Besnard, Thomas [Person:9854666] Pachchek, Sinthuja [Person:5654143] Giraud, Mathilde [Person:9854628] Talarmain, Patricia [Person:9854625] Robillard, Nelly [Person:9854662] Gourlaouen, Marie A [Person:442339] Bezieau, Stephane [Person:9854627] Fouassier, Marc
created	[InstanceEdit:9854637] Shamovsky, Veronica, 2023-11-28
journal	Br J Haematol
pages	750-752
pubMedIdentifier	27879994
title	A new mutation of ANO6 in two familial cases of Scott syndrome
volume	180
year	2018
(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] [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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