Associated Papers
A holistic approach to maximise diagnostic output in trio exome sequencing.
von Hardenberg S et al.
Frontiers in Pediatrics, 2023
37274821 (PubMed )
Supplement: Datasheet1.xlsx › Table_1_pV_lpV_variants
Targeted next-generation sequencing analysis in couples at increased risk for autosomal recessive disorders.
Komlosi K et al.
Orphanet Journal of Rare Diseases, 2018
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