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Renske Oegema, David Baillat, Rachel Schot, Leontine M. van Unen, Alice Brooks, Sima Kheradmand Kia, A. Jeannette M. Hoogeboom, Zheng Xia, Wei Li, Matteo Cesaroni, Maarten H. Lequin, Marjon van Slegtenhorst, William B. Dobyns, Irenaeus F. M. de Coo, Frans W. Verheijen, Andreas Kremer, Peter J. van der Spek, Daphne Heijsman, Eric J. Wagner, Maarten Fornerod, Grazia M. S. Mancini
Human mutations in integrator complex subunits link transcriptome integrity to brain development
www.plosgenetics.org
www.plosgenetics.org
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f*
0.83 0.64 0.02 0 k
36 275.3008 m
186.7465 275.3008 l
h
f*
0 g
7.9999 0 0 7.9999 36 708.7181 cm
BT
/F2 1 Tf
1 TL
-0.005 Tc
0 0 Td
(Table)Tj
2.7992 0 Td
(1.)Tj
1.2614 0 Td
(Clinical)Tj
3.7347 0 Td
(phenotype)Tj
5.2229 0 Td
(of)Tj
1.148 0 Td
(human)Tj
/F16 1 Tf
3.4725 0 Td
(INTS1)Tj
/F2 1 Tf
3.0189 0 Td
(and)Tj
/F16 1 Tf
1.9772 0 Td
(INTS8)Tj
/F2 1 Tf
3.0189 0 Td
(mutation)Tj
4.174 0 Td
(s.)Tj
/F16 1 Tf
0 Tc
-22.1812 -1.8567 Td
(INTS8)Tj
/F2 1 Tf
3.0543 0 Td
(patient)Tj
3.5008 0 Td
(1)Tj
/F16 1 Tf
4.3513 0 Td
(INTS8)Tj
/F2 1 Tf
3.0543 0 Td
(patient)Tj
3.5008 0 Td
(2)Tj
/F16 1 Tf
4.3583 0 Td
(INTS8)Tj
/F2 1 Tf
3.0544 0 Td
(patient)Tj
3.5008 0 Td
(3)Tj
/F16 1 Tf
4.3299 0 Td
(INTS1)Tj
/F2 1 Tf
3.0544 0 Td
(patient)Tj
3.5008 0 Td
(1)Tj
/F16 1 Tf
2.5583 0 Td
(INTS1)Tj
/F2 1 Tf
3.0544 0 Td
(patient)Tj
3.5008 0 Td
(2)Tj
/F16 1 Tf
2.6787 0 Td
(INTS1)Tj
/F2 1 Tf
3.0544 0 Td
(patient)Tj
3.5008 0 Td
(3)Tj
-65.254 -2.7496 Td
(Type)Tj
2.5582 0 Td
(of)Tj
-2.5582 -1.1835 Td
(mutatio)Tj
3.6 0 Td
(n)Tj
/F0 1 Tf
4.1669 1.1835 Td
(c.893A)Tj
/F6 1 Tf
[( !)]TJ
/F0 1 Tf
(G,)Tj
4.9678 0 Td
(p.)Tj
-4.9678 -1.1835 Td
(Asp298Gly;)Tj
0 -1.1905 Td
(c.2917_292)Tj
5.1804 0 Td
(5del,)Tj
2.3811 0 Td
(p.)Tj
-7.5615 -1.1835 Td
(Glu972_Le)Tj
4.8473 0 Td
(u974del)Tj
6.0662 3.5575 Td
(c.893A)Tj
/F6 1 Tf
3.0898 0 Td
[( !)]TJ
/F0 1 Tf
(G,)Tj
1.8709 0 Td
(p.)Tj
-4.9607 -1.1835 Td
(Asp298)Tj
3.3591 0 Td
(Gly;)Tj
-3.3591 -1.1905 Td
(c.2917_29)Tj
4.6276 0 Td
(25del,)Tj
2.9339 0 Td
(p.)Tj
-7.5615 -1.1835 Td
(Glu972_L)Tj
4.2945 0 Td
(eu974del)Tj
6.6119 3.5575 Td
(c.893A)Tj
/F6 1 Tf
[( !)]TJ
/F0 1 Tf
(G,)Tj
4.7339 0 Td
(p.)Tj
-4.7339 -1.1835 Td
(Asp298Gly;)Tj
0 -1.1905 Td
(c.2917_292)Tj
5.1804 0 Td
(5del,)Tj
2.3811 0 Td
(p.)Tj
-7.5615 -1.1835 Td
(Glu972_Le)Tj
4.8473 0 Td
(u974del)Tj
6.0449 3.5575 Td
(c.5351C)Tj
/F6 1 Tf
3.6922 0 Td
[( !)]TJ
/F0 1 Tf
(A,)Tj
1.7575 0 Td
(p.)Tj
-5.4497 -1.1835 Td
(\(Ser1784)Tj
/F7 1 Tf
[()]TJ
/F0 1 Tf
4.6276 0 Td
(\),)Tj
-4.6276 -1.1905 Td
(homozyg)Tj
4.0252 0 Td
(ote)Tj
5.0883 2.374 Td
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