Varaico: Literature-Extracted Genetic Variants

Gene:SMN1
Variant:p.V94F
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SMN1

NM_000344.4:p.V94F

Associated Papers

Genomic Variability in the Survival Motor Neuron Genes (SMN1 and SMN2): Implications for Spinal Muscular Atrophy Phenotype and Therapeutics Development.

Butchbach MER

International Journal of Molecular Sciences, 2021

Identification of two novel SMN1 point mutations associated with a very severe SMA-I phenotype.

Zhao X et al.

European Journal of Medical Genetics, 2020

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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."