Varaico: Literature-Extracted Genetic Variants

Gene:TCOF1
Variant:p.A293delFs
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TCOF1

NM_001371623.1:p.A293delFs

Associated Papers

Two novel pathogenic variants in the TCOF1 found in two Chinese cases of Treacher Collins syndrome.

Zhuang DY et al.

Molecular Genetics & Genomic Medicine, 2024

Comparison of Genetic, Auditory Features, and Systemic Clinical Phenotype in 14 Families with Syndromic Hearing Loss.

Zheng Z et al.

The Application of Clinical Genetics, 2024

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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."