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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RHBDL1

Variant:p.E194K

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RHBDL1

NM_001278720.2:p.E194K

hg38:chr16:677280 G>A

Associated Papers

SNAP25 disease mutations change the energy landscape for synaptic exocytosis due to aberrant SNARE interactions.

Kádková A et al.

Elife, 2024

38411501 (PubMed )

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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."