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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GCC2

Variant:p.K189*

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GCC2

NM_181453.4:p.K189*

hg38:chr2:108469894 A>T

Associated Papers

Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2.

Rossor AM et al.

Brain : a Journal of Neurology, 2015

25497877 (PubMed )

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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."