Found: 7
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Regulatory Architecture of the RCA Gene Cluster Captures an Intragenic TAD Boundary, CTCF-Mediated Chromatin Looping and a Long-Range Intergenic Enhancer.
- Published in:
- Frontiers in Immunology, 2022, v. 13, p. 1, doi. 10.3389/fimmu.2022.901747
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- Publication type:
- Article
A novel RFC1 repeat motif (ACAGG) in two Asia-Pacific CANVAS families.
- Published in:
- 2020
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- Publication type:
- journal article
Ovine congenital progressive muscular dystrophy (OCPMD) is a model of TNNT1 congenital myopathy.
- Published in:
- Acta Neuropathologica Communications, 2020, v. 8, n. 1, p. N.PAG, doi. 10.1186/s40478-020-01017-1
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- Publication type:
- Article
Nebulin nemaline myopathy recapitulated in a compound heterozygous mouse model with both a missense and a nonsense mutation in Neb.
- Published in:
- Acta Neuropathologica Communications, 2020, v. 8, n. 1, p. 1, doi. 10.1186/s40478-020-0893-1
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- Publication type:
- Article
Improved CRISPR/Cas9 gene editing in primary human myoblasts using low confluency cultures on Matrigel.
- Published in:
- Skeletal Muscle, 2021, v. 11, n. 1, p. 1, doi. 10.1186/s13395-021-00278-1
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- Publication type:
- Article
STRetch: detecting and discovering pathogenic short tandem repeat expansions.
- Published in:
- Genome Biology, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s13059-018-1505-2
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- Publication type:
- Article
Systemic AAV8-mediated delivery of a functional copy of muscle glycogen phosphorylase (Pygm) ameliorates disease in a murine model of McArdle disease.
- Published in:
- Human Molecular Genetics, 2020, v. 29, n. 1, p. 20, doi. 10.1093/hmg/ddz214
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- Publication type:
- Article