Varaico: Literature-Extracted Genetic Variants

Gene:PNO1
Variant:p.G42insFs
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PNO1

NM_020143.4:p.G42insFs

Associated Papers

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

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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."