A novel missense mutation affecting the same amino acid as the recurrent PACS1 mutation in Schuurs‐Hoeijmakers syndrome
A novel causative variant (c.608G>A, p.Arg203Gln) in PACS1
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| Veröffentlicht in: | Clinical genetics 2018-04, Vol.93 (4), p.929-930 |
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| container_end_page | 930 |
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| container_issue | 4 |
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| container_title | Clinical genetics |
| container_volume | 93 |
| creator | Miyake, N. Ozasa, S. Mabe, H. Kimura, S. Shiina, M. Imagawa, E. Miyatake, S. Nakashima, M. Mizuguchi, T. Takata, A. Ogata, K. Matsumoto, N. |
| description | A novel causative variant (c.608G>A, p.Arg203Gln) in PACS1 |
| doi_str_mv | 10.1111/cge.13105 |
| format | Article |
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| fulltext | fulltext |
| identifier | ISSN: 0009-9163 |
| ispartof | Clinical genetics, 2018-04, Vol.93 (4), p.929-930 |
| issn | 0009-9163 1399-0004 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_1947099242 |
| source | Wiley Online Library Journals Frontfile Complete |
| subjects | Amino acids Missense mutation Mutation |
| title | A novel missense mutation affecting the same amino acid as the recurrent PACS1 mutation in Schuurs‐Hoeijmakers syndrome |
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