Varaico: Literature-Extracted Genetic Variants

Gene:DHRS4L2
Variant:p.R159*
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DHRS4L2

NM_198083.4:p.R159*

Associated Papers

Long-read trio sequencing of individuals with unsolved intellectual disability.

Pauper M et al.

European Journal of Human Genetics : Ejhg, 2021

33257779 (PubMed )
Supplement: 41431_2020_770_MOESM3_ESM.xlsx › Table_S21

Integrated Genomic, Functional, and Prognostic Characterization of Atypical Chronic Myeloid Leukemia.

Fontana D et al.

Hemasphere, 2020

33196013 (PubMed )
Supplement: hs9-4-e497-s006.xlsx › Sheet1

The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting.

Stenson PD et al.

Human Genetics, 2020

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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."