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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RHBDL1

Variant:p.S247A

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RHBDL1

NM_001278720.2:p.S247A

hg38:chr16:677509 T>G

Associated Papers

Rhomboid intramembrane protease RHBDL4 triggers ER-export and non-canonical secretion of membrane-anchored TGFα.

Wunderle L et al.

Scientific Reports, 2016

27264103 (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."