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Schema
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LiteratureReference
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Entries
Dominant missense mutations in ABCC9 cause Cantú syndrome
Show undefined attributes
author
[Person:5678438] Harakalova, M
[Person:5678483] van Harssel, JJ
[Person:5678434] Terhal, PA
[Person:5678444] van Lieshout, S
[Person:5678457] Duran, K
[Person:5678466] Renkens, I
[Person:5678432] Amor, DJ
[Person:5678467] Wilson, LC
[Person:5678473] Kirk, EP
[Person:5678448] Turner, CL
[Person:5678484] Shears, D
[Person:3700952] Garcia-Minaur, S
[Person:5678461] Lees, MM
[Person:5678455] Ross, A
[Person:5607413] Venselaar, H
[Person:2060737] Vriend, G
[Person:5678462] Takanari, H
[Person:5678436] Rook, MB
[Person:5678471] van der Heyden, MA
[Person:5678435] Asselbergs, FW
[Person:5678478] Breur, HM
[Person:5678479] Swinkels, ME
[Person:5678469] Scurr, IJ
[Person:5678475] Smithson, SF
[Person:5678430] Knoers, NV
[Person:5678437] van der Smagt, JJ
[Person:5678452] Nijman, IJ
[Person:5678460] Kloosterman, WP
[Person:5623981] van Haelst, MM
[Person:5678486] van Haaften, G
[Person:5678487] Cuppen, E
created
[InstanceEdit:5678429] Jassal, Bijay, 2015-02-24
dbId
5678441
displayName
Dominant missense mutations in ABCC9 cause Cantú syndrome
journal
Nat. Genet.
pages
793-6
pubMedIdentifier
22610116
schemaClass
LiteratureReference
title
Dominant missense mutations in ABCC9 cause Cantú syndrome
url
http://www.ncbi.nlm.nih.gov/pubmed/22610116
volume
44
year
2012
Referrals
(literatureReference)
[Pathway:R-HSA-5678420] Defective ABCC9 causes CMD10, ATFB12 and Cantu syndrome
[FailedReaction:R-HSA-5678418] Defective ABCC9 (in KCNJ11:ABCC9) does not transport K+ from extracellular region to cytosol
(author)
[Person:5678444] van Lieshout, S
[Person:5623981] van Haelst, MM
[Person:5678432] Amor, DJ
[Person:5678435] Asselbergs, FW
[Person:5678434] Terhal, PA
[Person:5678437] van der Smagt, JJ
[Person:5678436] Rook, MB
[Person:5678438] Harakalova, M
[Person:5678457] Duran, K
[Person:5678461] Lees, MM
[Person:5678460] Kloosterman, WP
[Person:5678462] Takanari, H
[Person:5678448] Turner, CL
[Person:5678452] Nijman, IJ
[Person:5678455] Ross, A
[Person:5607413] Venselaar, H
[Person:3700952] Garcia-Minaur, S
[Person:5678473] Kirk, EP
[Person:2060737] Vriend, G
[Person:5678475] Smithson, SF
[Person:5678479] Swinkels, ME
[Person:5678478] Breur, HM
[Person:5678467] Wilson, LC
[Person:5678466] Renkens, I
[Person:5678469] Scurr, IJ
[Person:5678471] van der Heyden, MA
[Person:5678430] Knoers, NV
[Person:5678483] van Harssel, JJ
[Person:5678484] Shears, D
[Person:5678487] Cuppen, E
[Person:5678486] van Haaften, G
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