Varaico: Literature-Extracted Genetic Variants

Gene:RBMX
Variant:p.D333Y
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RBMX

NM_002139.4:p.D333Y

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

Characterizing the pathogenicity of genetic variants: the consequences of context.

Ciesielski TH et al.

Npj Genomic Medicine, 2024

Exomes of Ductal Luminal Breast Cancer Patients from Southwest Colombia: Gene Mutational Profile and Related Expression Alterations.

Cortes-Urrea C et al.

Biomolecules, 2020

32365829 (PubMed )
Supplement: biomolecules-10-00698-s001.zip › Article-to-BIOMOLECULES_R1_v4Apr2020 › CortesUrreaetal_R1_Supp_Table_S2_339SNPs.xlsx › Tab_S2_339_SNPs_440_alterations
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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."