Varaico: Literature-Extracted Genetic Variants

Gene:TCOF1
Variant:p.M1V
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TCOF1

NM_001371623.1:p.M1V

Associated Papers

Spliceosomopathies and neurocristopathies: Two sides of the same coin?

Beauchamp MC et al.

Developmental Dynamics : an Official Publication of the American Association of Anatomists, 2020

Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28.

Gripp KW et al.

American Journal of Medical Genetics. Part A, 2014

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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."