Associated Papers
SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation.
Nashabat M et al.
Nature Communications, 2024
38413582 (PubMed )
Supplement: 41467_2024_45933_MOESM1_ESM.pdf
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_2_VUS_variants
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