Varaico: Literature-Extracted Genetic Variants

Gene:SCAF11
Variant:p.T274I
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SCAF11

NM_004719.3:p.T274I

Associated Papers

Spinal muscular atrophy: molecular genetics and diagnostics.

Ogino S et al.

Expert Review of Molecular Diagnostics, 2004

Genetic testing and risk assessment for spinal muscular atrophy (SMA).

Ogino S et al.

Human Genetics, 2002

Quantitative analysis of survival motor neuron copies: identification of subtle SMN1 mutations in patients with spinal muscular atrophy, genotype-phenotype correlation, and implications for genetic counseling.

Wirth B et al.

American Journal of Human Genetics, 1999

Spinal muscular atrophy: untangling the knot?

Biros I et al.

Journal of Medical Genetics, 1999

Intragenic telSMN mutations: frequency, distribution, evidence of a founder effect, and modification of the spinal muscular atrophy phenotype by cenSMN copy number.

Parsons DW et al.

American Journal of Human Genetics, 1998

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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."