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A novel missense mutation affecting the same amino acid as the recurrent PACS1 mutation in Schuurs‐Hoeijmakers syndrome.
- Source :
- Clinical Genetics; Apr2018, Vol. 93 Issue 4, p929-930, 5p, 1 Color Photograph
- Publication Year :
- 2018
- Subjects :
- MISSENSE mutation
AMINO acids
Subjects
Details
- Language :
- English
- ISSN :
- 00099163
- Volume :
- 93
- Issue :
- 4
- Database :
- Complementary Index
- Journal :
- Clinical Genetics
- Publication Type :
- Academic Journal
- Accession number :
- 128483179
- Full Text :
- https://doi.org/10.1111/cge.13105