Varaico: Literature-Extracted Genetic Variants

Gene:HOXC11
Variant:p.S191F
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HOXC11

NM_014212.4:p.S191F

Associated Papers

Genotype-phenotype correlation in clubfoot (talipes equinovarus).

Hordyjewska-Kowalczyk E et al.

Journal of Medical Genetics, 2022

Patient-derived models recapitulate heterogeneity of molecular signatures and drug response in pediatric high-grade glioma.

He C et al.

Nature Communications, 2021

34215733 (PubMed )
Supplement: 41467_2021_24168_MOESM5_ESM.xlsx › SD2d

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

Multiplexed direct genomic selection (MDiGS): a pooled BAC capture approach for highly accurate CNV and SNP/INDEL detection.

Alvarado DM et al.

Nucleic Acids Research, 2014

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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."