Varaico: Literature-Extracted Genetic Variants

Gene:GCFC2
Variant:p.Q53L
Back to variants list

GCFC2

NM_003203.5:p.Q53L

Associated Papers

In silico functional, structural, and pathogenicity assessment of single nucleotide polymorphisms in the human SOX9 gene.

Shadhin MST et al.

Scientific Reports, 2025

Novel SRY-box transcription factor 9 variant in campomelic dysplasia and the location of missense and nonsense variants along the protein domains: A case report.

Calvache CA et al.

Frontiers in Pediatrics, 2022

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."