Varaico: Literature-Extracted Genetic Variants

Gene:HGD
Variant:p.K126delFs
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HGD

NM_000187.4:p.K126delFs

Associated Papers

Autozygome sequencing expands the horizon of human knockout research and provides novel insights into human phenotypic variation.

Alsalem AB et al.

Plos Genetics, 2013

24367280 (PubMed )
Supplement: pgen.1004030.s008.xlsx › Sheet1

Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuria.

Vilboux T et al.

Human Mutation, 2009

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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."