Varaico: Literature-Extracted Genetic Variants

Gene:RBMX
Variant:p.I34T
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RBMX

NM_002139.4:p.I34T

Associated Papers

Gustavson syndrome is caused by an in-frame deletion in RBMX associated with potentially disturbed SH3 domain interactions.

Johansson J et al.

European Journal of Human Genetics : Ejhg, 2024

Comment on Gustavson syndrome is caused by an in-frame deletion in RBMX associated with potentially disturbed SH3 domain interactions.

Gillentine MA

European Journal of Human Genetics : Ejhg, 2024

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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."