Varaico: Literature-Extracted Genetic Variants

Gene:SCAF11
Variant:p.T206_Y207insFs
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SCAF11

NM_004719.3:p.T206_Y207insFs

Associated Papers

Molecular analysis of SMA patients without homozygous SMN1 deletions using a new strategy for identification of SMN1 subtle mutations.

Clermont O et al.

Human Mutation, 2004

An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA).

Wirth B

Human Mutation, 2000

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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."