Varaico: Literature-Extracted Genetic Variants

Gene:DHH
Variant:p.C343R
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DHH

NM_021044.4:p.C343R

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

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."