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Paper Details

Heterozygous variants in SPTBN1 cause intellectual disability and autism.
Am J Med Genet A
7
2021
Autistic features, SPTA1, SPTAN1, SPTB, SPTBN1, SPTBN1 variants, SPTBN2, SPTBN4, SPTBN5, Spectrins, autism, behavioral disturbances, cytoskeletal elements, developmental delays, epilepsy, erythroid cell disorders, haploinsufficiency, human, intellectual disability, learning disabilities, neurologic disorders, spectrin genes, spectrinopathy, spectrinopathy disorders
Author NameAffiliation
Mary Kay KoenigUniversity of Texas McGovern Medical School
Pengfei LiuBaylor College of Medicine
Pengfei Liu
Yaping YangBaylor College of Medicine
Yaping Yang
Jennifer E PoseyBaylor College of Medicine
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Release 1.2