Varaico: Literature-Extracted Genetic Variants

Gene:CSTB
Variant:p.E29Q
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CSTB

NM_000100.4:p.E29Q

Associated Papers

Functional assays for the assessment of the pathogenicity of variants of GOSR2, an ER-to-Golgi SNARE involved in progressive myoclonus epilepsies.

Völker JM et al.

Disease Models & Mechanisms, 2017

28982678 (PubMed )
Supplement: dmm-10-029132-s1.pdf
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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."