Associated Papers
A taxonomic schema of potential pitfalls in clinical variant analysis based on real-world evidence.
Coovadia A et al.
Plos One, 2023
38032981 (PubMed )
Supplement: pone.0295010.s001.doc
Alignment-free method for functional annotation of amino acid substitutions: Application on epigenetic factors involved in hematologic malignancies.
Gemović B et al.
Plos One, 2021
33395407 (PubMed )
Supplement: pone.0244948.s001.pdf
Variations in Multiple Syndromic Deafness Genes Mimic Non-syndromic Hearing Loss.
Bademci G et al.
Scientific Reports, 2016
Identification of KMT2D and KDM6A mutations by exome sequencing in Korean patients with Kabuki syndrome.
Cheon CK et al.
Journal of Human Genetics, 2014
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