Varaico: Literature-Extracted Genetic Variants

Gene:WBP4
Variant:p.T167delFs
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WBP4

NM_007187.5:p.T167delFs

Associated Papers

Bi-allelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndrome.

Engal E et al.

American Journal of Human Genetics, 2023

Biallelic loss of function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental delay syndrome.

Engal E et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

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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."