Article ; Online: Expanding the clinical spectrum associated with the PACS1 p.Arg203Trp mutational hot-spot: Two additional Italian patients.
American journal of medical genetics. Part A
2022 Volume 191, Issue 1, Page(s) 284–288
| MeSH term(s) | Humans ; Mutation ; Vesicular Transport Proteins/genetics | |||||
|---|---|---|---|---|---|---|
| Chemical Substances | Vesicular Transport Proteins ; PACS1 protein, human | |||||
| Language | English | |||||
| Publishing date | 2022-10-09 | |||||
| Publishing country | United States | |||||
| Document type | Letter | |||||
| ZDB-ID | 2108614-X | |||||
| ISSN | 1552-4833 ; 0148-7299 ; 1552-4825 | |||||
| ISSN (online) | 1552-4833 | |||||
| ISSN | 0148-7299 ; 1552-4825 | |||||
| DOI | 10.1002/ajmg.a.62984 | |||||
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| Database | MEDical Literature Analysis and Retrieval System OnLINE |
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