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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ARHGEF28

Variant:p.H496L

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ARHGEF28

NM_001177693.2:p.H496L

hg38:chr5:73846327 A>T

Associated Papers

Caveats and truths in genetic, clinical, autoimmune and autoinflammatory issues in Blau syndrome and early onset sarcoidosis.

Caso F et al.

Autoimmunity Reviews, 2014

25182201 (PubMed )

Blau syndrome revisited.

Rose CD et al.

Current Opinion in Rheumatology, 2011

21788900 (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."