NBEA
Approved Name: neurobeachin
NBEA aliases: KIAA1544, BCL8B, FLJ10197, LYST2 Chromosomal Location: 13q13.3
HGNC: HGNC:7648
NBEA aliases: KIAA1544, BCL8B, FLJ10197, LYST2 Chromosomal Location: 13q13.3
HGNC: HGNC:7648
Cases
Patient ID * | Disorder(s) | Variant Type | Inheritance | Method | Chromosome * | Start Coordinate * | End Coordinate * | CNV Size * | Genome Build * | Coding DNA Change * | Protein Change * | Position * | Reference Sequence * | Alternate Sequence * | Reference |
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References
Iossifov I et. al., The contribution of de novo coding mutations to autism spectrum disorder., Nature, 2014 |
Allen AS et. al., De novo mutations in epileptic encephalopathies., Nature, 2013 |
Coe BP et. al., Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity., Nat Genet, 2019 |