Varaico: Literature-Extracted Genetic Variants

Gene:SBF2
Variant:p.I45N
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SBF2

NM_030962.4:p.I45N

Associated Papers

Novel SBF2 mutations and clinical spectrum of Charcot-Marie-Tooth neuropathy type 4B2.

Laššuthová P et al.

Clinical Genetics, 2018

Improving diagnosis of inherited peripheral neuropathies through gene panel analysis.

Laššuthová P et al.

Orphanet Journal of Rare Diseases, 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."