Varaico: Literature-Extracted Genetic Variants

Gene:DHX37
Variant:p.L489P
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DHX37

NM_032656.4:p.L489P

Associated Papers

DHX37 and the Implications in Disorders of Sex Development: An Update Review.

de Oliveira FR et al.

Hormone Research in Paediatrics, 2024

Genetic Evidence of the Association of DEAH-Box Helicase 37 Defects With 46,XY Gonadal Dysgenesis Spectrum.

da Silva TE et al.

The Journal of Clinical Endocrinology and Metabolism, 2019

The DEAH-box RNA helicase Dhr1 contains a remarkable carboxyl terminal domain essential for small ribosomal subunit biogenesis.

Roychowdhury A et al.

Nucleic Acids Research, 2019

Defective escape behavior in DEAH-box RNA helicase mutants improved by restoring glycine receptor expression.

Hirata H et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2013

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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."