Varaico: Literature-Extracted Genetic Variants

Gene:HOXD13
Variant:p.R274*
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HOXD13

NM_000523.4:p.R274*

Associated Papers

HOXD13-associated synpolydactyly: Extending and validating the genotypic and phenotypic spectrum with 38 new and 49 published families.

Gottschalk A et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2023

A single center experience of prenatal parent-fetus trio exome sequencing for pregnancies with congenital anomalies.

Dufke A et al.

Prenatal Diagnosis, 2022

35574990 (PubMed )
Supplement: supplement_1.xlsx › paper

Individualized iterative phenotyping for genome-wide analysis of loss-of-function mutations.

Johnston JJ et al.

American Journal of Human Genetics, 2015

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

[Advances in the molecular genetics of brachydactyly].

Guo Y et al.

Yi Chuan = Hereditas, 2012

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

Jamsheer A et al.

Bmc Medical Genetics, 2012

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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."