Varaico: Literature-Extracted Genetic Variants

Gene:GTF2H4
Variant:p.T133_S134delFs
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GTF2H4

NM_001517.5:p.T133_S134delFs

Associated Papers

A genetic and phenotypic analysis in Spanish spinal muscular atrophy patients with c.399_402del AGAG, the most frequently found subtle mutation in the SMN1 gene.

Cuscó I et al.

Human Mutation, 2003

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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."