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Volume 60, Issue 8
Biallelic frameshift variants in PHLDB1 cause mild-type osteogenesis imperfecta with regressive spondylometaphyseal changes
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Novel disease loci
Original research
Biallelic frameshift variants in
PHLDB1
cause mild-type osteogenesis imperfecta with regressive spondylometaphyseal changes
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Dec 2022
470
37
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Jan 2023
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56
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Feb 2023
227
27
9
Mar 2023
175
17
10
Apr 2023
151
10
3
May 2023
152
15
2
Jun 2023
103
5
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Jul 2023
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18
8
Aug 2023
367
22
12
Sep 2023
114
16
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Oct 2023
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8
5
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8
Dec 2023
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11
8
Jan 2024
183
15
11
Feb 2024
121
10
6
Mar 2024
197
17
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Total
3772
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149
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