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Volume 103, Issue 6
Identification of a novel pathogenic missense mutation in PRPF31 using whole exome sequencing: a case report
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Clinical science
Identification of a novel pathogenic missense mutation in
PRPF31
using whole exome sequencing: a case report
Online download statistics by month:
Online download statistics by month: July 2018 to February 2024
Abstract
Full
Pdf
Jul 2018
322
325
113
Aug 2018
361
372
27
Sep 2018
105
103
18
Oct 2018
58
57
14
Nov 2018
94
94
9
Dec 2018
318
318
8
Jan 2019
287
281
8
Feb 2019
459
448
9
Mar 2019
477
474
10
Apr 2019
485
483
13
May 2019
540
539
27
Jun 2019
165
160
39
Jul 2019
74
70
25
Aug 2019
87
81
15
Sep 2019
50
49
12
Oct 2019
47
42
9
Nov 2019
56
55
17
Dec 2019
47
44
8
Jan 2020
47
47
7
Feb 2020
50
42
9
Mar 2020
60
49
12
Apr 2020
45
43
8
May 2020
49
48
14
Jun 2020
30
28
7
Jul 2020
32
31
12
Aug 2020
25
25
8
Sep 2020
46
42
9
Oct 2020
41
39
13
Nov 2020
16
16
15
Dec 2020
57
46
4
Jan 2021
16
15
11
Feb 2021
19
16
5
Mar 2021
18
18
8
Apr 2021
41
41
21
May 2021
37
36
20
Jun 2021
24
23
11
Jul 2021
36
36
12
Aug 2021
7
5
11
Sep 2021
22
22
16
Oct 2021
37
36
25
Nov 2021
37
36
22
Dec 2021
28
28
13
Jan 2022
29
29
2
Feb 2022
50
49
12
Mar 2022
20
18
8
Apr 2022
9
10
5
May 2022
34
34
14
Jun 2022
40
39
14
Jul 2022
24
23
8
Aug 2022
25
25
15
Sep 2022
22
22
14
Oct 2022
33
29
12
Nov 2022
24
22
10
Dec 2022
11
8
7
Jan 2023
18
18
3
Feb 2023
27
26
4
Mar 2023
11
9
3
Apr 2023
15
6
3
May 2023
14
8
7
Jun 2023
18
12
11
Jul 2023
10
9
9
Aug 2023
10
7
4
Sep 2023
8
6
2
Oct 2023
11
7
2
Nov 2023
16
15
3
Dec 2023
27
16
7
Jan 2024
19
17
5
Feb 2024
9
6
7
Total
5386
5233
865
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