Varaico: Literature-Extracted Genetic Variants

Gene:HOXD10
Variant:p.M319K
Back to variants list

HOXD10

NM_002148.4:p.M319K

Associated Papers

Genotype-phenotype correlation in clubfoot (talipes equinovarus).

Hordyjewska-Kowalczyk E et al.

Journal of Medical Genetics, 2022

HOXA9 rs3801776 G>A polymorphism increases congenital talipes equinovarus risk in a Chinese population.

Li J et al.

The Journal of Gene Medicine, 2019

Functional Assessment of Clubfoot Associated HOXA9, TPM1, and TPM2 Variants Suggests a Potential Gene Regulation Mechanism.

Weymouth KS et al.

Clinical Orthopaedics and Related Research, 2016

Deletions of 5' HOXC genes are associated with lower extremity malformations, including clubfoot and vertical talus.

Alvarado DM et al.

Journal of Medical Genetics, 2016

GESPA: classifying nsSNPs to predict disease association.

Khurana JK et al.

Bmc Bioinformatics, 2015

26206375 (PubMed )
Supplement: 12859_2015_673_MOESM2_ESM.xls › Sheet1

Human HOX gene disorders.

Quinonez SC et al.

Molecular Genetics and Metabolism, 2014

Altered transmission of HOX and apoptotic SNPs identify a potential common pathway for clubfoot.

Ester AR et al.

American Journal of Medical Genetics. Part A, 2009

Absence of HOXD10 mutations in idiopathic clubfoot and sporadic vertical talus.

Gurnett CA et al.

Clinical Orthopaedics and Related Research, 2007

HOXD10 M319K mutation in a family with isolated congenital vertical talus.

Dobbs MB et al.

Journal of Orthopaedic Research : Official Publication of the Orthopaedic Research Society, 2006

A HOX gene mutation in a family with isolated congenital vertical talus and Charcot-Marie-Tooth disease.

Shrimpton AE et al.

American Journal of Human Genetics, 2004

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."