Varaico: Literature-Extracted Genetic Variants

Gene:RPS7
Variant:p.Q25_A26Splc
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RPS7

NM_001011.4:p.Q25_A26Splc

Associated Papers

Animal models of Diamond-Blackfan anemia: updates and challenges.

Liu YL et al.

Haematologica, 2023

36384250 (PubMed )
Supplement: 2022_282042_LIU_SUPPL.pdf

Aberrant splicing due to a novel RPS7 variant causes Diamond-Blackfan Anemia associated with spontaneous remission and meningocele.

Akram T et al.

International Journal of Hematology, 2020

Diagnostic challenge of Diamond-Blackfan anemia in mothers and children by whole-exome sequencing.

Ichimura T et al.

International Journal of Hematology, 2017

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