De novo, heterozygous, loss-of-function mutations in...

American Journal of Medical Genetics Part A 2015 / 10 Vol. 167; Iss. 10

De novo, heterozygous, loss-of-function mutations in SYNGAP1 cause a syndromic form of intellectual disability

Parker, Michael J., Fryer, Alan E., Shears, Deborah J., Lachlan, Katherine L., McKee, Shane A., Magee, Alex C., Mohammed, Shehla, Vasudevan, Pradeep C., Park, Soo-Mi, Benoit, Valérie, Lederer, Damien,
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Volume:
167
Journal:
American Journal of Medical Genetics Part A
DOI:
10.1002/ajmg.a.37189
Date:
October, 2015
File:
PDF, 948 KB
2015
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