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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CTH

Variant:p.D187G

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CTH

NM_001902.6:p.D187G

hg38:chr1:70424388 A>G

Associated Papers

A study of congenital generalized lipodystrophy (CGL) caused by BSCL2 gene mutation.

Ye JY et al.

Yi Chuan = Hereditas, 2022

36384728 (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."