Varaico: Literature-Extracted Genetic Variants

Gene:FIBP
Variant:p.K132E
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FIBP

NM_004214.5:p.K132E

Associated Papers

Homozygous FIBP nonsense variant responsible of syndromic overgrowth, with overgrowth, macrocephaly, retinal coloboma and learning disabilities.

Thauvin-Robinet C et al.

Clinical Genetics, 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."