Varaico: Literature-Extracted Genetic Variants

Gene:GTF2H2
Variant:p.K190K
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GTF2H2

NM_001515.4:p.K190K

Associated Papers

Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene.

Alías L et al.

Human Genetics, 2009

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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."