Varaico: Literature-Extracted Genetic Variants

Gene:SMN1
Variant:p.P144delFs
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SMN1

NM_000344.4:p.P144delFs

Associated Papers

Alberta Spinal Muscular Atrophy Newborn Screening-Results from Year 1 Pilot Project.

Niri F et al.

International Journal of Neonatal Screening, 2023

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

Wadman RI et al.

Brain Communications, 2020

32954327 (PubMed )
Supplement: fcaa075_supplementary_data.pdf

Novel point mutations in survival motor neuron 1 gene expand the spectrum of phenotypes observed in spinal muscular atrophy patients.

Jędrzejowska M et al.

Neuromuscular Disorders : Nmd, 2014

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