Varaico: Literature-Extracted Genetic Variants

Gene:ABCB6
Variant:p.W154fs
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ABCB6

NM_005689.4:p.W154fs

Associated Papers

Novel missense mutation of SASH1 in a Chinese family with dyschromatosis universalis hereditaria.

Cao L et al.

Bmc Medical Genomics, 2021

Identification of a Novel Mutation in SASH1 Gene in a Chinese Family With Dyschromatosis Universalis Hereditaria and Genotype-Phenotype Correlation Analysis.

Wu N et al.

Frontiers in Genetics, 2020

Atypical presentation of dyschromatosis universalis hereditaria with a novel ABCB6 mutation.

Zhong W et al.

Clinical and Experimental Dermatology, 2019

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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."