2 Matching Annotations
- May 2022
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Embryonal rhabdomyosarcoma (ERMS) of the uterus has recently been shown to frequently harbor DICER1 mutations.
HGNCID:
Tags
- Mutation: c.4420A>G
- Mutation: c5113G>A
- Zygosity: Some Cases displayed homozygosity
- pathogenicity: only 2 of 17 patients died from disease
- case wt: m&f 0.5-19
- Mutation: c.5428G>T
- Mutation: 5428 G>C
- Family Information: not identified
- case mut: f 28-67
- GeneName: DICER1
- Mutation: c.4267G>T
- Variant: Clinvar ID not identified
- Mutation: c.5125G > A
- Disease Entity: Embryonal rhabdomyosarcoma (ERMS)
- Mutation: c.3580delA
- PMID (PubMed ID): 33846547
- Mutation: c.5438 A> C
- Inheritance Pattern: Non- inheritance(DNA methylation)
Annotators
URL
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- Jun 2021
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www.nature.com www.nature.com
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Liu, Jianying, Yang Liu, Hongjie Xia, Jing Zou, Scott C. Weaver, Kena A. Swanson, Hui Cai, et al. “BNT162b2-Elicited Neutralization of B.1.617 and Other SARS-CoV-2 Variants.” Nature, June 10, 2021, 1–5. https://doi.org/10.1038/s41586-021-03693-y.
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