Hi-C detects genomic structural variants in peripheral blood of pediatric leukemia patients.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 1, p. 1, doi. 10.1101/mcs.a006157
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- Publication type:
- Article
Works matching IS 23732873 AND DT 2022 AND VI 8 AND IP 1
Results: 7
1
2
PIK3CA mutation in a case of CTNNB1-mutant sinonasal glomangiopericytoma.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 1, p. 1, doi. 10.1101/mcs.a006120
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- Publication type:
- Article
3
Classification of the canonical splice alteration MUTYH c.934-2A >G is likely benign based on RNA and clinical data.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 1, p. 1, doi. 10.1101/mcs.a006152
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- Publication type:
- Article
4
Clinicopathologic and molecular analysis of a BCOR-CCNB3 undifferentiated sarcoma of the kidney reveals significant epigenetic alterations.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 1, p. 1, doi. 10.1101/mcs.a005942
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- Publication type:
- Article
5
Functional impact and targetability of PI3KCA, GNAS, and PTEN mutations in a spindle cell rhabdomyosarcoma with MYOD1 L122R mutation.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 1, p. 1, doi. 10.1101/mcs.a006140
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- Publication type:
- Article
6
MED13L-related intellectual disability due to paternal germinal mosaicism.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 1, p. 1, doi. 10.1101/mcs.a006124
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- Publication type:
- Article
7
Novel PAX6 variant in a family with ophthalmologic, pancreatic, and olfactory features.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 1, p. 1, doi. 10.1101/mcs.a006149
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- Publication type:
- Article