Whole-exome sequencing identified a novel heterozygous variant UBAP2L in a Chinese family with Neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies

Published: 20 September 2024| Version 1 | DOI: 10.17632/92ss7b8ppb.1
Contributor:
Qi Yang

Description

UBAP2L-deficiency syndrome is an autosomal dominant disorder. The disease is caused by heterozygous variant in the UBAP2L gene (NM_014847.4, MIM 616472).Whole exome sequencing was performed and revealed a novel heterozygous frameshift variant in UBAP2Lin the proband.

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Gene, Genetic Generalized Epilepsy

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