Varaico: Literature-Extracted Genetic Variants

Gene:ESR1
Variant:p.A312_D313insFs
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ESR1

NM_000125.4:p.A312_D313insFs

Associated Papers

Identification of a new homozygous frameshift insertion mutation in the SIL1 gene in 3 Japanese patients with Marinesco-Sjögren syndrome.

Eriguchi M et al.

Journal of the Neurological Sciences, 2008

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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."