De novo missense variants in RAC3 cause a novel neurodevelopmental syndrome
Purpose RAC3 is an underexamined member of the Rho GTPase gene family that is
expressed in the developing brain and linked to key cellular functions. De novo missense
variants in the homolog RAC1 were recently associated with developmental disorders. In the
RAC subfamily, transforming missense changes at certain shared residues have been
observed in human cancers and previously characterized in experimental studies. The
purpose of this study was to determine whether constitutional dysregulation of RAC3 is …
expressed in the developing brain and linked to key cellular functions. De novo missense
variants in the homolog RAC1 were recently associated with developmental disorders. In the
RAC subfamily, transforming missense changes at certain shared residues have been
observed in human cancers and previously characterized in experimental studies. The
purpose of this study was to determine whether constitutional dysregulation of RAC3 is …
[引用][C] De novo missense variants in RAC3 cause a novel neurodevelopmental syndrome
M Osundiji, G Costain, B Callewaert… - 39th Annual David W …, 2019 - biblio.ugent.be
… De novo missense variants in RAC3 cau... … De novo missense variants in RAC3 cause a
novel neurodevelopmental syndrome. AMERICAN JOURNAL OF MEDICAL GENETICS PART A,
179(4), 739–739. … “De Novo Missense Variants in RAC3 Cause a Novel Neurodevelopmental
Syndrome.” In AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 179:739–739. …
novel neurodevelopmental syndrome. AMERICAN JOURNAL OF MEDICAL GENETICS PART A,
179(4), 739–739. … “De Novo Missense Variants in RAC3 Cause a Novel Neurodevelopmental
Syndrome.” In AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 179:739–739. …
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