Varaico: Literature-Extracted Genetic Variants

Gene:DHH
Variant:p.L386insFs
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DHH

NM_021044.4:p.L386insFs

Associated Papers

Case Report: Long-term follow-up of desert hedgehog variant caused 46, XY gonadal dysgenesis with multiple complications in a Chinese child.

Pan L et al.

Frontiers in Genetics, 2022

Mutations in the desert hedgehog (DHH) gene in the disorders of sexual differentiation and male infertility.

Mehta P et al.

Journal of Assisted Reproduction and Genetics, 2021

[Clinical Findings in Two patients with DSD 46XY caused by new variant of the Desert Hedgehog Gene and review of the literature of the role of DHH signaling pathway in sex development].

Kalinchenko NY et al.

Problemy Endokrinologii, 2021

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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."