Varaico: Literature-Extracted Genetic Variants

Gene:WNT9B
Variant:p.R222H
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WNT9B

NM_003396.3:p.R222H

Associated Papers

Genetic determinants of global developmental delay and intellectual disability in Ukrainian children.

Shchubelka K et al.

Journal of Neurodevelopmental Disorders, 2024

38539105 (PubMed )
Supplement: 11689_2024_9528_MOESM2_ESM.xlsx › Diagnosed

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

Lemire G et al.

American Journal of Medical Genetics. Part A, 2021

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

Herlin MK et al.

Orphanet Journal of Rare Diseases, 2020

Accumulation of rare coding variants in genes implicated in risk of human cleft lip with or without cleft palate.

Marini NJ et al.

American Journal of Medical Genetics. Part A, 2019

31063268 (PubMed )
Supplement: AJMG-179-1260-s006.xlsx › Table_S3

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."