Varaico: Literature-Extracted Genetic Variants

Gene:BLM
Variant:p.T537insFs
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BLM

NM_000057.4:p.T537insFs

Associated Papers

Intellectual disability and abnormal cortical neuron phenotypes in patients with Bloom syndrome.

Kaneko H et al.

Journal of Human Genetics, 2023

Clinical features of Bloom syndrome and function of the causative gene, BLM helicase.

Kaneko H et al.

Expert Review of Molecular Diagnostics, 2004

Structural basis of Bloom syndrome (BS) causing mutations in the BLM helicase domain.

Rong SB et al.

Molecular Medicine (cambridge, Mass.), 2000

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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."