Varaico: Literature-Extracted Genetic Variants

Gene:BCAP31
Variant:p.E245_E246delFs
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BCAP31

NM_001256447.2:p.E245_E246delFs

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

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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."