Varaico: Literature-Extracted Genetic Variants

Gene:HOXB1
Variant:p.R230W
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HOXB1

NM_002144.4:p.R230W

Associated Papers

Two novel compound heterozygous HOXB1 variants in congenital facial palsy: A case report and a brief review of the literature.

Brugnoli C et al.

American Journal of Medical Genetics. Part A, 2025

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

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