Varaico: Literature-Extracted Genetic Variants

Gene:RPS19
Variant:p.T5insFs
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RPS19

NM_001022.4:p.T5insFs

Associated Papers

A new in-frame deletion in ribosomal protein S19 in a Chinese infant with Diamond-Blackfan anemia.

Zhang JY et al.

Blood Cells, Molecules & Diseases, 2016

Translation of branched-chain aminotransferase-1 transcripts is impaired in cells haploinsufficient for ribosomal protein genes.

Pereboom TC et al.

Experimental Hematology, 2014

First de novo mutation in RPS19 gene as the cause of hydrops fetalis in Diamond–Blackfan anemia.

Da Costa L et al.

American Journal of Hematology, 2013

Hereditary spherocytosis due to band 3 deficiency: 15 novel mutations in SLC4A1.

Van Zwieten R et al.

American Journal of Hematology, 2013

First de novo mutation in RPS19 gene as the cause of hydrops fetalis in Diamond-Blackfan anemia.

Da Costa L et al.

American Journal of Hematology, 2013

Nonsense-mediated and nonstop decay of ribosomal protein S19 mRNA in Diamond-Blackfan anemia.

Chatr-Aryamontri A et al.

Human Mutation, 2004

The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia.

Draptchinskaia N et al.

Nature Genetics, 1999

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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."