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

Autor: Basel-Salmon, Lina, Ruhrman-Shahar, Noa, Orenstein, Naama, Goldberg, Yael, Gonzaga-Jauregui, Claudia, Shuldiner, Alan R., Sukenik-Halevy, Rivka, Maya, Idit, Magal, Nurit, Hagari, Ofir, Azulay, Noy, Lidzbarsky, Gabriel Arie, Bazak, Lily
Zdroj: In Genetics in Medicine January 2021 23(1):215-221
Databáze: ScienceDirect
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