Analysis of 31-year-old patient with SYNGAP1 gene defect points to importance of variants in broader splice regions and reveals developmental trajectory of SYNGAP1-associated phenotype: case report
Crossref DOI link: https://doi.org/10.1186/s12881-017-0425-4
Published Online: 2017-06-02
Published Print: 2017-12
Update policy: https://doi.org/10.1007/springer_crossmark_policy
Prchalova, Darina
Havlovicova, Marketa
Sterbova, Katalin
Stranecky, Viktor
Hancarova, Miroslava https://orcid.org/0000-0001-6772-8862
Sedlacek, Zdenek
Funding for this research was provided by:
Ministerstvo Zdravotnictví Ceské Republiky (17-29423A)