Varaico: Literature-Extracted Genetic Variants

Gene:SMN2
Variant:p.K93T
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SMN2

NM_017411.4:p.K93T

Associated Papers

Comprehensive SMN1 and SMN2 profiling for spinal muscular atrophy analysis using long-read PacBio HiFi sequencing.

Chen X et al.

American Journal of Human Genetics, 2023

36669496 (PubMed )
Supplement: mmc1.pdf
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