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
Biallelic variants in TMEM222 cause a new autosomal recessive neurodevelopmental disorder.
Polla DL et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
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