Varaico: Literature-Extracted Genetic Variants

Gene:SOX11
Variant:p.R64P
Back to variants list

SOX11

NM_003108.4:p.R64P

Associated Papers

Case Report: Observation of early-onset high myopia with fundus tessellation changes in Coffin-Siris syndrome 9 (CSS9) and literature review.

Wu R et al.

Frontiers in Pediatrics, 2025

40933692 (PubMed )
Supplement: Datasheet2.xlsx › Sheet1

Novel variants in the SOX11 gene: clinical description of seven new patients.

Schincariol-Manhe B et al.

European Journal of Human Genetics : Ejhg, 2024

Identification of a novel phenotype of external ear deformity related to Coffin-Siris syndrome-9 and literature review.

Wu R et al.

American Journal of Medical Genetics. Part A, 2024

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."