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Mutations in
GRN
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1
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GRN Cys314X
(g.2394C>A)
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EX10
GranA |
Le Ber I, 2007
Le Ber I, 2008
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2
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GRN Ala324Thr
(g.2422G>A)
Not pathogenic
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EX10
GranA |
Gass J, 2006
Schymick J, 2007
Beck J, 2008
Pickering-Brown SM, 2008
Sleegers K, 2008
Brouwers N, 2008
Nuytemans K, 2008
Finch N, 2009
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3
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GRN Lys332
(g.2448G>A)
Not pathogenic
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EX10
GranA |
van der Zee J, 2007
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4
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GRN Gly333fs
(g.2450delG)
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EX10
GranA |
Gass J, 2006
Mesulam M, 2007
Kelley BJ, 2009
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5
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GRN Gln337X
(g.2461C>T)
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EX10
InterAC |
Van Deerlin VM, 2007
Yu CE, 2010
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6
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GRN His340fs
(g.2466delG)
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EX10
GranA |
Benussi L, 2008
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7
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GRN Gln341X
(g.2473C>T)
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EX10
GranA |
Benussi L, 2008
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8
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GRN Pro357fs
(g.2522delC)
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EX10
InterAC |
López de Munain A, 2008
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9
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GRN Gln358X
(g.2524C>T)
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EX10
InterAC |
Spina S, 2008
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10
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GRN Cys366fs
(g.2547_2548delCT)
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EX10
GranC |
Le Ber I, 2007
Le Ber I, 2008
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11
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GRN Asp376Asn
(g.2578G>A)
Not pathogenic
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EX10
GranC |
Guerreiro RJ, 2010
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12
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GRN Thr382fs
(g.2596_2597insA)
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EX10
GranC |
Bruni AC, 2007
Frangipane F, 2008
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13
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GRN Thr382fs
(g.2597delC)
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EX10
GranC |
Baker M, 2006
Gass J, 2006
Kelley BJ, 2009
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14
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GRN Trp386X
(g.2609G>A)
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EX10
GranC |
Baker M, 2006
Gass J, 2006
Lindquist S, 2009
Yu CE, 2010
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15
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GRN Pro392
(g.2628A>C)
Pathogenic nature unclear
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EX10
GranC |
Schymick J, 2007
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Selection: Gene = GRN EX10
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