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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HOXB1

Variant:p.Y116*

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HOXB1

NM_002144.4:p.Y116*

hg38:chr17:48530557 G>C

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

39235314 (PubMed )

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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."