Varaico: Literature-Extracted Genetic Variants

Gene:RPL35A
Variant:p.M1V
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RPL35A

NM_000996.4:p.M1V

Associated Papers

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

Ribosomal protein mutations in Korean patients with Diamond-Blackfan anemia.

Chae H et al.

Experimental & Molecular Medicine, 2014

RPS19 mutations in patients with Diamond-Blackfan anemia.

Campagnoli MF et al.

Human Mutation, 2008

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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."