Varaico: Literature-Extracted Genetic Variants

Gene:ABCD4
Variant:p.R251H
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ABCD4

NM_005050.4:p.R251H

Associated Papers

Familial colorectal cancer: search for novel predisposition genes.

Försti A et al.

Human Genomics, 2025

41469725 (PubMed )
Supplement: 40246_2025_901_MOESM2_ESM.xlsx › A._Missense

Structural Biology Helps Interpret Variants of Uncertain Significance in Genes Causing Endocrine and Metabolic Disorders.

Ittisoponpisan S et al.

Journal of the Endocrine Society, 2018

30019023 (PubMed )
Supplement: js.2018-00077.sd2.xls › Sheet1
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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."