Varaico: Literature-Extracted Genetic Variants

Gene:SMN1
Variant:p.R288S
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SMN1

NM_000344.4:p.R288S

Associated Papers

Impact of missense mutations in survival motor neuron protein (SMN1) leading to Spinal Muscular Atrophy (SMA): A computational approach.

Sneha P et al.

Metabolic Brain Disease, 2018

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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."