Varaico: Literature-Extracted Genetic Variants

Gene:SMN1
Variant:p.T128S
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SMN1

NM_000344.4:p.T128S

Associated Papers

Diving deep: zebrafish models in motor neuron degeneration research.

Garg V et al.

Frontiers in Neuroscience, 2024

Amyotrophic lateral sclerosis: new insights into underlying molecular mechanisms and opportunities for therapeutic intervention.

Cozzolino M et al.

Antioxidants & Redox Signaling, 2012

TDP-43 and FUS/TLS: cellular functions and implications for neurodegeneration.

Fiesel FC et al.

The Febs Journal, 2011

Pathogenic TARDBP mutations in amyotrophic lateral sclerosis and frontotemporal dementia: disease-associated pathways.

Barmada SJ et al.

Reviews in the Neurosciences, 2010

TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis.

Kabashi E et al.

Nature Genetics, 2008

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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."