A novel splice site variant in ITPR1 gene underlying recessive Gillespie syndrome

American Journal of Medical Genetics Part A,Volume 176, Issue 6, Page 1427-1431, June 2018.

Source: American Journal of Medical Genetics Part A - April 16, 2018 Category: Genetics & Stem Cells Authors: LedaPaganini , ChiaraPesenti , DonatellaMilani , LauraFontana , SilviaMotta , Silvia MariaSirchia , GiuliettaScuvera , PaolaMarchisio , SusannaEsposito , Claudia MariaCinnante , Silvia MariaTabano , Monica RosaMiozzo Source Type: research