Varaico: Literature-Extracted Genetic Variants

Gene:ELMO2
Variant:p.L202fs
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ELMO2

NM_133171.5:p.L202fs

Associated Papers

ELMO2-related intraosseous vascular malformation: new cases with novel pathogenic variants, clinical follow-up and therapeutic approaches.

Karakaya M et al.

European Journal of Human Genetics : Ejhg, 2025

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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."