Varaico: Literature-Extracted Genetic Variants

Gene:SOX9
Variant:p.V114L
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SOX9

NM_000346.4:p.V114L

Associated Papers

Evolutionary Landscape of SOX Genes to Inform Genotype-to-Phenotype Relationships.

Underwood A et al.

Genes, 2023

Parallel Tests of Whole Exome Sequencing and Copy Number Variant Sequencing Increase the Diagnosis Yields of Rare Pediatric Disorders.

Hu X et al.

Frontiers in Genetics, 2020

Mutation analysis of adenomas and carcinomas of the colon: Early and late drivers.

Wolff RK et al.

Genes, Chromosomes & Cancer, 2018

29575536 (PubMed )
Supplement: GCC-57-366-s006.xlsx › Validation_Mutations
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