Varaico: Literature-Extracted Genetic Variants

Gene:GTF2H3
Variant:p.P245L
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GTF2H3

NM_001516.5:p.P245L

Associated Papers

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."