Varaico: Literature-Extracted Genetic Variants

Gene:SOX9
Variant:p.P238fs
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SOX9

NM_000346.4:p.P238fs

Associated Papers

Identification of potential causative gene of anorectal malformation : Short title: causative gene of anorectal malformation.

Choochuen P et al.

Scientific Reports, 2025

41034313 (PubMed )
Supplement: 41598_2025_15066_MOESM3_ESM.xlsx › Supplementary_data_S2

Improving genetic diagnosis by disease-specific, ACMG/AMP variant interpretation guidelines for hearing loss.

Kim SY et al.

Scientific Reports, 2022

35864128 (PubMed )
Supplement: 41598_2022_16661_MOESM1_ESM.xlsx › variant_list

Powerful use of automated prioritization of candidate variants in genetic hearing loss with extreme etiologic heterogeneity.

Kim SY et al.

Scientific Reports, 2021

34593925 (PubMed )
Supplement: 41598_2021_99007_MOESM1_ESM.xlsx › Table_S1
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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."