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Publications by Riccardo Sangermano

ABCA4-associated Disease as a Model for Missing Heritability in Autosomal Recessive Disorders: Novel Noncoding Splice, Cis-Regulatory, Structural, and Recurrent Hypomorphic Variants

Genetics in Medicine

English

A Combined RNA-seq and Whole Genome Sequencing Approach for Identification of Non-Coding Pathogenic Variants in Single Families.

English