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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CTH

Variant:p.Q106_I107delFs

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CTH

NM_001902.6:p.Q106_I107delFs

hg38:chr1:70418002 CAAATT>C

Associated Papers

Congenital generalized lipodystrophy: identification of novel variants and expansion of clinical spectrum.

Haghighi A et al.

Clinical Genetics, 2016

26072926 (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."