Varaico: Literature-Extracted Genetic Variants

Gene:HOXB1
Variant:p.Y22*
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HOXB1

NM_002144.4:p.Y22*

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

A framework for the evaluation of patients with congenital facial weakness.

Webb BD et al.

Orphanet Journal of Rare Diseases, 2021

A Novel Loss-of-Function Mutation in HOXB1 Associated with Autosomal Recessive Hereditary Congenital Facial Palsy in a Large Iranian Family.

Vahidi Mehrjardi MY et al.

Molecular Syndromology, 2017

A novel homozygous HOXB1 mutation in a Turkish family with hereditary congenital facial paresis.

Sahin Y et al.

Brain & Development, 2017

Homozygous HOXB1 loss-of-function mutation in a large family with hereditary congenital facial paresis.

Vogel M et al.

American Journal of Medical Genetics. Part A, 2016

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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."