Varaico: Literature-Extracted Genetic Variants

Gene:SOX9
Variant:p.E66*
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SOX9

NM_000346.4:p.E66*

Associated Papers

Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases.

De La Vega FM et al.

Genome Medicine, 2021

34645491 (PubMed )
Supplement: 13073_2021_965_MOESM1_ESM.xlsx › Table_S1

A Randomized, Controlled Trial of the Analytic and Diagnostic Performance of Singleton and Trio, Rapid Genome and Exome Sequencing in Ill Infants.

Kingsmore SF et al.

American Journal of Human Genetics, 2019

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