Varaico: Literature-Extracted Genetic Variants

Gene:WNT10B
Variant:p.R332W
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WNT10B

NM_003394.4:p.R332W

Associated Papers

Haplotype Phasing of Biallelic WNT10B Variants Using Long-Read Sequencing in Split-Hand/Foot Malformation Syndrome.

Pozojevic J et al.

Clinical Genetics, 2025

Sequence Variants in the WNT10B Underlying Non-Syndromic Split-Hand/Foot Malformation.

Bilal M et al.

Molecular Syndromology, 2023

Homozygous nonsense mutation of WNT10B gene in a Moroccan family with split-hand foot malformation identified by exome sequencing: a case report.

Elalaoui SC et al.

The Pan African Medical Journal, 2021

WNT10B variants in split hand/foot malformation: Report of three novel families and review of the literature.

Brunelle P et al.

American Journal of Medical Genetics. Part A, 2019

A Novel Homozygous Nonsense Mutation p.Cys366* in the WNT10B Gene Underlying Split-Hand/Split Foot Malformation in a Consanguineous Pakistani Family.

Khan A et al.

Frontiers in Pediatrics, 2019

WNT10B mutations associated with isolated dental anomalies.

Kantaputra PN et al.

Clinical Genetics, 2018

Japanese founder duplications/triplications involving BHLHA9 are associated with split-hand/foot malformation with or without long bone deficiency and Gollop-Wolfgang complex.

Nagata E et al.

Orphanet Journal of Rare Diseases, 2014

Split-hand/foot malformation - molecular cause and implications in genetic counseling.

Sowińska-Seidler A et al.

Journal of Applied Genetics, 2014

Novel homozygous mutations in the WNT10B gene underlying autosomal recessive split hand/foot malformation in three consanguineous families.

Aziz A et al.

Gene, 2014

A novel homozygous missense mutation in WNT10B in familial split-hand/foot malformation.

Khan S et al.

Clinical Genetics, 2012

Homozygous nonsense mutation in WNT10B and sporadic split-hand/foot malformation (SHFM) with autosomal recessive inheritance.

Blattner A et al.

American Journal of Medical Genetics. Part A, 2010

Homozygous WNT10b mutation and complex inheritance in Split-Hand/Foot Malformation.

Ugur SA et al.

Human Molecular Genetics, 2008

Homozygous sequence variants in the WNT10B gene underlie split hand/foot malformation.

Ullah A et al.

Genetics and Molecular Biology, 0

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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."