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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SCFD2

Variant:p.V269G

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SCFD2

NM_152540.4:p.V269G

hg38:chr4:53365136 A>C

Associated Papers

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

Shamseldin HE et al.

Human Genetics, 2016

26742501 (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."