Varaico: Literature-Extracted Genetic Variants

Gene:KDM6B
Variant:p.S308L
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KDM6B

NM_001348716.2:p.S308L

Associated Papers

Waardenburg syndrome type 2 with a de novo variant of the SOX10 gene: a case report.

Li Y et al.

Bmc Medical Genomics, 2024

38659011 (PubMed )
Supplement: 12920_2024_1877_MOESM2_ESM.xlsx › H12056928648

XAF1 as a modifier of p53 function and cancer susceptibility.

Pinto EM et al.

Science Advances, 2020

32637605 (PubMed )
Supplement: aba3231_Table_S1.xlsx › Table_S1
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