Analysis of 31-year-old patient withSYNGAP1gene defect...

BMC Medical Genetics 2017 / 12 Vol. 18; Iss. 1

Analysis of 31-year-old patient withSYNGAP1gene defect points to importance of variants in broader splice regions and reveals developmental trajectory ofSYNGAP1-associated phenotype: case report

Darina Prchalova,Marketa Havlovicova,Katalin Sterbova…
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Volume:
18
Language:
english
Journal:
BMC Medical Genetics
DOI:
10.1186/s12881-017-0425-4
Date:
December, 2017
File:
PDF, 2.83 MB
english, 2017
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