Varaico: Literature-Extracted Genetic Variants

Gene:GOLGA2
Variant:p.R422_E423delFs
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GOLGA2

NM_004486.6:p.R422_E423delFs

Associated Papers

Increasing the sensitivity of clinical exome sequencing through improved filtration strategy.

Shamseldin HE et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

GOLGA2, encoding a master regulator of golgi apparatus, is mutated in a patient with a neuromuscular disorder.

Shamseldin HE et al.

Human Genetics, 2016

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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."