Varaico: Literature-Extracted Genetic Variants

Gene:WDR48
Variant:p.L648delFs
Back to variants list

WDR48

NM_020839.4:p.L648delFs

Associated Papers

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.

Zhi Y et al.

Cns Neuroscience & Therapeutics, 2025

39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG60

KBG syndrome involving a single-nucleotide duplication in ANKRD11.

Kleyner R et al.

Cold Spring Harbor Molecular Case Studies, 2016

27900361 (PubMed )
Supplement: supp_mcs.a001131_Supp_File_4_Tables_1-3.zip › Supplementary_Table_1.xlsx › VAAST_results_38836_denovo.csv
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."