Varaico: Literature-Extracted Genetic Variants

Gene:BCAP31
Variant:p.L87_L89del0
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BCAP31

NM_001139457.2:p.L87_L89del0

Associated Papers

Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants.

Whalen S et al.

European Journal of Human Genetics : Ejhg, 2021

BCAP31 Mutation Causing a Syndrome of Congenital Dystonia, Facial Dysorphism and Central Hypomyelination Discovered Using Exome Sequencing.

Vittal P et al.

Movement Disorders Clinical Practice, 0

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."