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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TGOLN2

Variant:p.G138R

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TGOLN2

NM_006464.4:p.G138R

hg38:chr2:85327320 C>G

Associated Papers

Oculodentodigital dysplasia-causing connexin43 mutants are non-functional and exhibit dominant effects on wild-type connexin43.

Roscoe W et al.

The Journal of Biological Chemistry, 2005

15644317 (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."