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Oculoectodermal syndrome is a mosaic RASopathy associated with KRAS alterations.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 7, p. 1429, doi. 10.1002/ajmg.a.37048
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- Article
Analysis of Single Nucleotide Variants in CRISPR-Cas9 Edited Zebrafish Exomes Shows No Evidence of Off-Target Inflation.
- Published in:
- Frontiers in Genetics, 2019, p. 1, doi. 10.3389/fgene.2019.00949
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- Publication type:
- Article
Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy.
- Published in:
- Nature Communications, 2020, v. 11, n. 1, p. 1, doi. 10.1038/s41467-020-17452-6
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- Publication type:
- Article