Varaico: Literature-Extracted Genetic Variants

Gene:IGFBP3
Variant:p.K181E
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IGFBP3

NM_000598.5:p.K181E

Associated Papers

Heterozygous HESX1 mutations associated with isolated congenital pituitary hypoplasia and septo-optic dysplasia.

Thomas PQ et al.

Human Molecular Genetics, 2001

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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."