Varaico: Literature-Extracted Genetic Variants

Gene:SOX11
Variant:p.R51W
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SOX11

NM_003108.4:p.R51W

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

Somatic mutations in angiogenesis-related pathways and RNA polymerase II activity in sporadic brain arteriovenous malformations.

Pérez-Alfayate R et al.

Frontiers in Neurology, 2025

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

Single Cell Genetic Profiling of Tumors of Breast Cancer Patients Aged 50 Years and Older Reveals Enormous Intratumor Heterogeneity Independent of Individual Prognosis.

Liegmann AS et al.

Cancers, 2021

34282768 (PubMed )
Supplement: cancers-13-03366-s001.zip › cancers-1245840-SI › Supplementary_Files › Supplemental_Tables › S10_Supplemental_Table.xlsx › all
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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."