論文 - 詳細
| RRC ID | 76171 |
|---|---|
| 著者 | Fielder SM, Rosenfeld JA, Burrage LC, Emrick L, Lalani S, Attali R, Bembenek JN, Hoang H, Baldridge D, Silverman GA, Undiagnosed Diseases Network, Schedl T, Pak SC. |
| タイトル | Functional analysis of a novel de novo variant in PPP5C associated with microcephaly, seizures, and developmental delay. |
| ジャーナル | Mol Genet Metab |
| 巻・号 | 136(1) |
| ページ | 65-73 |
| 公開日 | 2022-5-1 |
| DOI | 10.1016/j.ymgme.2022.03.007 |
| PII | S1096-7192(22)00170-6 |
| PMID | 35361529 |
| PMC | PMC10200280 |
| MeSH | Animals Caenorhabditis elegans / genetics Caenorhabditis elegans Proteins / genetics Child Developmental Disabilities* / genetics F-Box Proteins* / genetics Humans Microcephaly* / genetics Mutation, Missense Nuclear Proteins* / genetics Phenotype Phosphoprotein Phosphatases* / genetics Seizures* / genetics Separase / genetics |
| リソース情報 | |
| 線虫 | tm2979 |