Varaico: Literature-Extracted Genetic Variants

Gene:FIBP
Variant:p.K118E
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FIBP

NM_004214.5:p.K118E

Associated Papers

A recessive syndrome of intellectual disability, moderate overgrowth, and renal dysplasia predisposing to Wilms tumor is caused by a mutation in FIBP gene.

Akawi N et al.

American Journal of Medical Genetics. Part A, 2016

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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."