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Mutations in
GRN
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1
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GRN Asn118fs
(g.1064delG)
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EX5
interGF |
Le Ber I, 2008
Gijselinck I, 2008
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2
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GRN Asn119del
(g.1069_1071delAAC)
Not pathogenic
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EX5
InterGF |
Guerreiro RJ, 2010
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3
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GRN Ser120Tyr
(g.1073C>A)
Not pathogenic
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EX5
InterGF |
Schymick J, 2007
Guerreiro RJ, 2010
Del Bo R, 2011
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4
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GRN Val121fs
(g.1075delG)
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EX5
InterGF |
Le Ber I, 2007
Le Ber I, 2008
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5
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GRN Ile124Thr
(g.1085T>C)
Pathogenic nature unclear
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EX5
GranF |
Sleegers K, 2008
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6
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GRN Gln125X
(g.1087C>T)
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EX5
GranF |
Baker M, 2006
Cruts M, 2006
Bronner IF, 2007
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7
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GRN Pro127fs
(g.1094_1095delCT)
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EX5
GranF |
Cruts M, 2006
Le Ber I, 2008
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8
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GRN Asp128
(g.1098T>C)
Not pathogenic
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EX5
GranF |
Gass J, 2006
van der Zee J, 2007
Guerreiro RJ, 2008
Sleegers K, 2008
Tremolizzo L, 2009
Guerreiro RJ, 2010
Del Bo R, 2011
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9
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GRN Gln130fs
(g.1098_1101delTAGT)
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EX5
GranF |
Le Ber I, 2007
Le Ber I, 2008
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10
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GRN Gln130fs
(g.1102_1105delCAGT)
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EX5
GranF |
Baker M, 2006
Gass J, 2006
Beck J, 2008
Finch N, 2009
Carecchio M, 2009
Yu CE, 2010
Rohrer JD, 2010
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11
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GRN Pro134
(g.1116G>A)
Not pathogenic
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EX5
GranF |
Guerreiro RJ, 2010
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12
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GRN Thr138
(g.1128G>A)
Pathogenic nature unclear
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EX5
GranF |
Sleegers K, 2008
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13
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GRN Cys139Arg
(g.1129T>C)
Pathogenic nature unclear
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EX5
GranF |
Brouwers N, 2008
Finch N, 2009
Bernardi L, 2009
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14
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GRN Val141Ile
(g.1135G>A)
Not pathogenic
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EX5
GranF |
Schymick J, 2007
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Selection: Gene = GRN EX5
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