Varaico: Literature-Extracted Genetic Variants

Gene:SBF1
Variant:p.L737fs
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SBF1

NM_002972.4:p.L737fs

Associated Papers

SBF1 mutations associated with autosomal recessive axonal neuropathy with cranial nerve involvement.

Manole A et al.

Neurogenetics, 2017

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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."