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Details on Person Splicing dysregulation contributes to the pathogenicity of several F9 exonic point variants

Class:Id	LiteratureReference:9673136
_displayName	Splicing dysregulation contributes to the pathogenicity of several F9 exonic point variants
_timestamp	2020-01-06 18:03:55
author	[Person:9673143] Katneni, Upendra K [Person:9673139] Liss, Aaron [Person:9673138] Holcomb, David [Person:9673137] Katagiri, Nobuko H [Person:9670896] Hunt, Ryan [Person:9673142] Bar, Haim [Person:9673140] Ismail, Amra [Person:8984886] Komar, Anton A [Person:9666364] Kimchi-Sarfaty, Chava
created	[InstanceEdit:9673141] Shamovsky, Veronica, 2020-01-06
journal	Mol Genet Genomic Med
pages	e840
pubMedIdentifier	31257730
title	Splicing dysregulation contributes to the pathogenicity of several F9 exonic point variants
volume	7
year	2019
(literatureReference)	[CandidateSet:9670852] Non-secretable F9 variant [endoplasmic reticulum lumen] [Homo sapiens] [EntityWithAccessionedSequence:9672452] F9(29-461) R162R [endoplasmic reticulum lumen] [Homo sapiens] [Summation:9670891] In healthy individuals, the coagulation factor IX (FIX) is s...
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