Varaico: Literature-Extracted Genetic Variants

Gene:HOXD13
Variant:p.N314H
Back to variants list

HOXD13

NM_000523.4:p.N314H

Associated Papers

A Novel Missense Variant of HOXD13 Caused Atypical Synpolydactyly by Impairing the Downstream Gene Expression and Literature Review for Genotype-Phenotype Correlations.

Guo R et al.

Frontiers in Genetics, 2021

Joining the fingers: a HOXD13 Story.

Brison N et al.

Developmental Dynamics : an Official Publication of the American Association of Anatomists, 2014

Mutations in the homeodomain of HOXD13 cause syndactyly type 1-c in two Chinese families.

Dai L et al.

Plos One, 2014

A novel non-synonymous mutation in the homeodomain of HOXD13 causes synpolydactyly in a Chinese family.

Wang B et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2012

Isolated brachydactyly type E caused by a HOXD13 nonsense mutation: a case report.

Jamsheer A et al.

Bmc Medical Genetics, 2012

Genetic screening of 202 individuals with congenital limb malformations and requiring reconstructive surgery.

Furniss D et al.

Journal of Medical Genetics, 2009

Missense mutations in the homeodomain of HOXD13 are associated with brachydactyly types D and E.

Johnson D et al.

American Journal of Human Genetics, 2003

6 Clinical genetics of syn- and brachydactyly: mutations in FGFR2 and HOXD13.

Wilkie A et al.

Journal of Anatomy, 2002

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."