Varaico: Literature-Extracted Genetic Variants

Gene:RPL35A
Variant:p.L28del1
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RPL35A

NM_000996.4:p.L28del1

Associated Papers

Regulated GATA1 expression as a universal gene therapy for Diamond-Blackfan anemia.

Voit RA et al.

Cell Stem Cell, 2025

39532107 (PubMed )
Supplement: NIHMS2031095-supplement-1.pdf

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

Liu YL et al.

Haematologica, 2023

36384250 (PubMed )
Supplement: 2022_282042_LIU_SUPPL.pdf

Late-onset familial Diamond-Blackfan anemia with neutropenia caused by RPL35A variant.

Tamefusa K et al.

Pediatrics International : Official Journal of the Japan Pediatric Society, 2022

Diagnostic Value of a Protocolized In-Depth Evaluation of Pediatric Bone Marrow Failure: A Multi-Center Prospective Cohort Study.

Atmar K et al.

Frontiers in Immunology, 2022

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

Gianferante MD et al.

Haematologica, 2021

Reanalysing genomic data by normalized coverage values uncovers CNVs in bone marrow failure gene panels.

Lauhasurayotin S et al.

Npj Genomic Medicine, 2019

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

Farrar JE et al.

Blood, 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."