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Details on Person Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy

Class:IdLiteratureReference:444324
_displayNameGain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy
_timestamp2017-12-20 22:51:48
author[Person:444340] Pandit, B
[Person:444351] Sarkozy, A
[Person:174810] Pennacchio, LA
[Person:444335] Carta, C
[Person:199662] Oishi, K
[Person:444319] Martinelli, S
[Person:444328] Pogna, EA
[Person:444337] Schackwitz, W
[Person:444339] Ustaszewska, A
[Person:444349] Landstrom, A
[Person:444318] Bos, JM
[Person:444346] Ommen, SR
[Person:444320] Esposito, G
[Person:444315] Lepri, F
[Person:373402] Faul, C
[Person:373425] Mundel, P
[Person:444325] López Siguero, JP
[Person:444333] Tenconi, R
[Person:444332] Selicorni, A
[Person:444313] Rossi, C
[Person:444314] Mazzanti, L
[Person:444342] Torrente, I
[Person:444355] Marino, B
[Person:444348] Digilio, MC
[Person:444352] Zampino, G
[Person:5577045] Ackerman, Michael J
[Person:444341] Dallapiccola, B
[Person:444344] Tartaglia, M
[Person:199641] Gelb, BD
created[InstanceEdit:444322] Mahajan, SS, 2009-10-23
journalNat Genet
modified[InstanceEdit:444377] Mahajan, SS, 2009-10-23
[InstanceEdit:9033389] D'Eustachio, Peter, 2017-12-20
pages1007-12
pubMedIdentifier17603483
titleGain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy
volume39
year2007
(literatureReference)[EntityWithAccessionedSequence:9656017] p-S338,Y341,S494,S621 RAF1 T491R [cytosol] [Homo sapiens]
[EntityWithAccessionedSequence:9656019] p-S338,Y341,S494,S621-RAF1 T491I [cytosol] [Homo sapiens]
[EntityWithAccessionedSequence:9656023] p-S338,Y341,T492,S494,S621 RAF1 D486G [cytosol] [Homo sapiens]
[EntityWithAccessionedSequence:9656026] p-S338,Y341,T492,S494,S621 RAF1 D486N [cytosol] [Homo sapiens]
[EntityWithAccessionedSequence:9656035] p-S338,Y341,T492,S494,S621 RAF1 L613V [cytosol] [Homo sapiens]
[EntityWithAccessionedSequence:9656043] p-S338,Y341,T492,S494,S621 RAF1 P261L [cytosol] [Homo sapiens]
[EntityWithAccessionedSequence:9656056] p-S338,Y341,T492,S494,S621 RAF1 R256S [cytosol] [Homo sapiens]
[EntityWithAccessionedSequence:9656074] p-S338,Y341,T492,S494,S621 RAF1 T260I [cytosol] [Homo sapiens]
[EntityWithAccessionedSequence:9656077] p-S338,Y341,T492,S494,S621 RAF1 T260R [cytosol] [Homo sapiens]
[EntityWithAccessionedSequence:9656085] p-S621-RAF1 D486G [cytosol] [Homo sapiens]
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