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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RPS10

Variant:p.F152_R153Splc

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RPS10

NM_001014.5:p.F152_R153Splc

hg38:chr6:34417791 T>C

Associated Papers

A de novo nonsense variant in RPS10 causes Diamond-Blackfan anaemia in an Indian patient: clinical and functional evidence.

Kamble P et al.

Molecular Genetics and Genomics : Mgg, 2025

40960598 (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."