Varaico: Literature-Extracted Genetic Variants

Gene:HOXD13
Variant:p.S316C
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HOXD13

NM_000523.4:p.S316C

Associated Papers

Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.

Wei J et al.

Plos Biology, 2024

38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar

DNA binding analysis of rare variants in homeodomains reveals homeodomain specificity-determining residues.

Kock KH et al.

Nature Communications, 2024

38600112 (PubMed )
Supplement: 41467_2024_47396_MOESM5_ESM.xls › variants

Systematic analysis of the intersection of disease mutations with protein modifications.

Simpson CM et al.

Bmc Medical Genomics, 2019

31345222 (PubMed )
Supplement: 12920_2019_543_MOESM5_ESM.xlsx › S4

Survey of variation in human transcription factors reveals prevalent DNA binding changes.

Barrera LA et al.

Science (new York, N.y.), 2016

Human HOX gene disorders.

Quinonez SC et al.

Molecular Genetics and Metabolism, 2014

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

Dai L et al.

Plos One, 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."