Associated Papers
Synonymous and non-synonymous variants at splice junctions can disrupt splicing and are frequently linked to disease associated loss of function genes.
Srinivasan S et al.
Bmc Genomics, 2025
41436921 (PubMed )
Supplement: 12864_2025_12466_MOESM15_ESM.pdf
Hereditary Spastic Paraplegia Linked to Abnormal Splicing From an AIMP1 Missense Variant.
Morais S et al.
Clinical Genetics, 2025
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