Varaico: Literature-Extracted Genetic Variants

Gene:WDR11
Variant:p.D1011_R1012delFs
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WDR11

NM_018117.12:p.D1011_R1012delFs

Associated Papers

NR5A1/SF-1 Collaborates with Inhibin α and the Androgen Receptor.

Naamneh Elzenaty R et al.

International Journal of Molecular Sciences, 2024

39337600 (PubMed )
Supplement: ijms-25-10109-s001.zip › ijms-3175587-supplementary.pdf

Can Non-Coding NR5A1 Gene Variants Explain Phenotypes of Disorders of Sex Development?

Fabbri-Scallet H et al.

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

Biallelic loss-of-function variants in WDR11 are associated with microcephaly and intellectual disability.

Haag N et al.

European Journal of Human Genetics : Ejhg, 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."