Varaico: Literature-Extracted Genetic Variants

Gene:SBF1
Variant:p.T537I
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SBF1

NM_002972.4:p.T537I

Associated Papers

A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs).

Pareyson D et al.

Annals of Neurology, 2019

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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."