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Volume 57, Issue 4
Recurrent homozygous damaging mutation in TMX2, encoding a protein disulfide isomerase, in four families with microlissencephaly
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Neurogenetics
Original research
Recurrent homozygous damaging mutation in
TMX2
, encoding a protein disulfide isomerase, in four families with microlissencephaly
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Abstract
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Oct 2019
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Nov 2019
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Dec 2019
178
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Jan 2020
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Feb 2020
181
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Mar 2020
292
23
18
Apr 2020
274
17
12
May 2020
200
15
6
Jun 2020
93
14
10
Jul 2020
118
7
4
Aug 2020
89
4
4
Sep 2020
73
14
7
Oct 2020
72
9
3
Nov 2020
62
2
2
Dec 2020
72
5
3
Jan 2021
67
4
1
Feb 2021
75
8
10
Mar 2021
48
8
3
Apr 2021
49
0
0
May 2021
31
1
1
Jun 2021
2
2
4
Jul 2021
6
5
5
Aug 2021
6
3
3
Sep 2021
1
0
0
Oct 2021
95
3
3
Nov 2021
77
5
8
Dec 2021
58
3
2
Jan 2022
70
7
3
Feb 2022
64
0
2
Mar 2022
54
5
4
Apr 2022
75
5
2
May 2022
57
3
1
Jun 2022
94
3
3
Jul 2022
58
3
1
Aug 2022
89
13
3
Sep 2022
105
6
5
Oct 2022
84
5
5
Nov 2022
79
7
5
Dec 2022
45
1
0
Jan 2023
99
7
2
Feb 2023
121
1
1
Mar 2023
65
5
2
Apr 2023
51
9
4
May 2023
1481
55
12
Jun 2023
37
2
2
Jul 2023
35
6
0
Aug 2023
48
5
6
Sep 2023
61
3
0
Oct 2023
41
5
3
Nov 2023
53
13
9
Dec 2023
78
2
2
Jan 2024
37
6
5
Feb 2024
21
1
0
Total
6584
514
281
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