Varaico: Literature-Extracted Genetic Variants

Gene:DHH
Variant:p.L363fs
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DHH

NM_021044.4:p.L363fs

Associated Papers

The Desert Hedgehog Signalling Pathway in Human Gonadal Development and Differences of Sex Development.

Pachernegg S et al.

Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2022

Functional analysis of novel desert hedgehog gene variants improves the clinical interpretation of genomic data and provides a more accurate diagnosis for patients with 46,XY differences of sex development.

Ayers K et al.

Journal of Medical Genetics, 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."