Varaico: Literature-Extracted Genetic Variants

Gene:SMS
Variant:p.I152_L153insFs
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SMS

NM_004595.5:p.I152_L153insFs

Associated Papers

Intellectual and Behavioral Phenotypes of Smith-Magenis Syndrome: Comparisons between Individuals with a 17p11.2 Deletion and Pathogenic RAI1 Variant.

Linders CC et al.

Genes, 2023

37628566 (PubMed )
Supplement: genes-14-01514-s001.zip › genes-2505576-supplementary.pdf
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