Varaico: Literature-Extracted Genetic Variants

Gene:SMN2
Variant:p.E134delFs
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SMN2

NM_017411.4:p.E134delFs

Associated Papers

Revealing diverse alternative splicing variants of the highly homologous SMN1 and SMN2 genes by targeted long-read sequencing.

Dai M et al.

Molecular Genetics and Genomics : Mgg, 2022

Intragenic and structural variation in the SMN locus and clinical variability in spinal muscular atrophy.

Wadman RI et al.

Brain Communications, 2020

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