Varaico: Literature-Extracted Genetic Variants

Gene:GABBR2
Variant:p.R457M
Back to variants list

GABBR2

NM_005458.8:p.R457M

Associated Papers

Novel loss-of-function variants in WDR26 cause Skraban-Deardorff syndrome in two Chinese patients.

Yang Q et al.

Frontiers in Pediatrics, 2024

39363971 (PubMed )
Supplement: Table1.xls › Supplementary_Table_1
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."