Varaico: Literature-Extracted Genetic Variants

Gene:RPL35A
Variant:p.R102*
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RPL35A

NM_000996.4:p.R102*

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

Genotype-phenotype association and variant characterization in Diamond-Blackfan anemia caused by pathogenic variants in RPL35A.

Gianferante MD et al.

Haematologica, 2021

Abnormalities of the large ribosomal subunit protein, Rpl35a, in Diamond-Blackfan anemia.

Farrar JE et al.

Blood, 2008

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