Varaico: Literature-Extracted Genetic Variants

Gene:SMN2
Variant:p.E14*
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SMN2

NM_017411.4:p.E14*

Associated Papers

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

Wadman RI et al.

Brain Communications, 2020

[Analysis of SMN1 gene partial deletion of spinal muscular atrophy based on MLPA].

Zhang W et al.

Zhonghua Yi Xue Za Zhi, 2015

Subtle mutation detection of SMN1 gene in Chinese spinal muscular atrophy patients: implication of molecular diagnostic procedure for SMN1 gene mutations.

Bai JL et al.

Genetic Testing and Molecular Biomarkers, 2014

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."