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Volume 55, Issue 12
Genome sequencing reveals a deep intronic splicing ACVRL1 mutation hotspot in Hereditary Haemorrhagic Telangiectasia
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Diagnostics
Original article
Genome sequencing reveals a deep intronic splicing
ACVRL1
mutation hotspot in Hereditary Haemorrhagic Telangiectasia
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Online download statistics by month: September 2018 to February 2024
Abstract
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Sep 2018
516
50
19
Oct 2018
601
69
46
Nov 2018
512
40
26
Dec 2018
286
35
19
Jan 2019
152
13
7
Feb 2019
118
14
7
Mar 2019
141
18
10
Apr 2019
132
8
12
May 2019
134
15
8
Jun 2019
62
8
6
Jul 2019
95
8
2
Aug 2019
65
12
6
Sep 2019
71
9
7
Oct 2019
130
8
8
Nov 2019
50
2
1
Dec 2019
91
13
6
Jan 2020
108
11
4
Feb 2020
130
9
9
Mar 2020
68
5
3
Apr 2020
52
1
1
May 2020
67
2
3
Jun 2020
50
2
2
Jul 2020
40
3
2
Aug 2020
60
4
1
Sep 2020
85
3
1
Oct 2020
98
5
2
Nov 2020
83
4
1
Dec 2020
49
3
3
Jan 2021
165
2
1
Feb 2021
84
5
2
Mar 2021
72
5
5
Apr 2021
49
5
2
May 2021
39
10
8
Jun 2021
4
1
0
Jul 2021
7
7
5
Aug 2021
4
2
0
Sep 2021
3
2
1
Oct 2021
38
3
3
Nov 2021
60
8
6
Dec 2021
98
2
0
Jan 2022
62
7
3
Feb 2022
38
2
0
Mar 2022
41
6
3
Apr 2022
76
2
4
May 2022
122
3
5
Jun 2022
103
5
2
Jul 2022
103
6
2
Aug 2022
171
8
1
Sep 2022
72
7
3
Oct 2022
137
11
5
Nov 2022
54
0
1
Dec 2022
103
5
2
Jan 2023
43
9
4
Feb 2023
79
5
0
Mar 2023
53
9
6
Apr 2023
32
2
1
May 2023
45
4
1
Jun 2023
76
7
3
Jul 2023
73
4
2
Aug 2023
45
3
1
Sep 2023
61
2
2
Oct 2023
59
1
0
Nov 2023
70
6
1
Dec 2023
91
4
4
Jan 2024
72
1
0
Feb 2024
104
13
8
Total
6654
558
319
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