Association of the missense variant p. Arg203Trp in PACS1 as a cause of intellectual disability and seizures

Association of the missense variant p. Arg203Trp in PACS1 as a cause of intellectual disability and seizures

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Bibliographic Details
Published in:Clinical genetics Vol. 92; no. 2; pp. 221 - 223
Main Authors: Stern, D., Cho, M.T., Chikarmane, R., Willaert, R., Retterer, K., Kendall, F., Deardorff, M., Hopkins, S., Bedoukian, E., Slavotinek, A., Schrier Vergano, S., Spangler, B., McDonald, M., McConkie‐Rosell, A., Burton, B.K., Kim, K.H., Oundjian, N., Kronn, D., Chandy, N., Baskin, B., Guillen Sacoto, M.J., Wentzensen, I.M., McLaughlin, H.M., McKnight, D., Chung, W.K.
Format: Journal Article
Language:English
Published: 01-08-2017
Online Access:Get full text
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Description
ISSN:0009-9163
1399-0004
DOI:10.1111/cge.12956