Varaico: Literature-Extracted Genetic Variants

Gene:STKLD1
Variant:p.M259_E260del1
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STKLD1

NM_153710.5:p.M259_E260del1

Associated Papers

Identification of a novel SBF2 frameshift mutation in charcot-marie-tooth disease type 4B2 using whole-exome sequencing.

Chen M et al.

Genomics, Proteomics & Bioinformatics, 2014

25462154 (PubMed )
Supplement: mmc2.xlsx › Sheet1
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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."