Varaico: Literature-Extracted Genetic Variants

Gene:POLR1D
Variant:p.G99fs
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POLR1D

NM_015972.4:p.G99fs

Associated Papers

Genetic and Molecular Characterization of Treacher Collins Syndrome in Three Mexican Families.

Camarillo-Benitez S et al.

International Journal of Molecular Sciences, 2026

Fetal Phenotype and Diagnosis of Treacher Collins Syndrome Due to a Novel POLR1D Variant.

Wang X et al.

Prenatal Diagnosis, 2026

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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."