When phenotype does not match genotype: importance of “real-time” refining of phenotypic information for exome data interpretation

Lina Basel-Salmon*, Noa Ruhrman-Shahar, Naama Orenstein, Yael Goldberg, Claudia Gonzaga-Jauregui, Alan R. Shuldiner, Rivka Sukenik-Halevy, Idit Maya, Nurit Magal, Ofir Hagari, Noy Azulay, Gabriel Arie Lidzbarsky, Lily Bazak

*Corresponding author for this work

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Biochemistry, Genetics and Molecular Biology