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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:FH

Variant:p.G167D

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FH

NM_000143.4:p.G167D

hg38:chr1:241512022 C>T

Associated Papers

The Role of VHL in the Development of von Hippel-Lindau Disease and Erythrocytosis.

Hudler P et al.

Genes, 2022

35205407 (PubMed )

Novel genotype-phenotype correlations in five Chinese families with Von Hippel-Lindau disease.

Liu Q et al.

Endocrine Connections, 2018

29871882 (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."