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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Bibliographic Details
Published in:Clinical genetics 2018-04, Vol.93 (4), p.929-930
Main Authors: Miyake, N., Ozasa, S., Mabe, H., Kimura, S., Shiina, M., Imagawa, E., Miyatake, S., Nakashima, M., Mizuguchi, T., Takata, A., Ogata, K., Matsumoto, N.
Format: Article
Language:English
Subjects:
Amino acids
Missense mutation
Mutation
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Description
Summary:A novel causative variant (c.608G>A, p.Arg203Gln) in PACS1
ISSN:0009-9163
1399-0004
DOI:10.1111/cge.13105