Varaico: Literature-Extracted Genetic Variants

Gene:WNT9B
Variant:p.R325H
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WNT9B

NM_003396.3:p.R325H

Associated Papers

Homozygous WNT9B variants in two families with bilateral renal agenesis/hypoplasia/dysplasia.

Lemire G et al.

American Journal of Medical Genetics. Part A, 2021

Integrated exome and RNA sequencing of TFE3-translocation renal cell carcinoma.

Sun G et al.

Nature Communications, 2021

34489456 (PubMed )
Supplement: 41467_2021_25618_MOESM6_ESM.xlsx › Somatic_mutations

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: a comprehensive update.

Herlin MK et al.

Orphanet Journal of Rare Diseases, 2020

Mutations in WNT9B are associated with Mayer-Rokitansky-Küster-Hauser syndrome.

Waschk DE et al.

Clinical Genetics, 2016

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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."