Varaico: Literature-Extracted Genetic Variants

Gene:RPS19
Variant:p.V103A
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RPS19

NM_001022.4:p.V103A

Associated Papers

RPS19 and RPL5, the most commonly mutated genes in Diamond Blackfan anemia, impact DNA double-strand break repair.

DeCleene NF et al.

Biorxiv : the Preprint Server for Biology, 2024

39416207 (PubMed )
Supplement: media-1.pdf

Unusual Association of Diamond-Blackfan Anemia and Severe Sinus Bradycardia in a Six-Month-Old White Infant: A Case Report and Literature Review.

Moisa SM et al.

Medicina (kaunas, Lithuania), 2023

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

Gianferante MD et al.

Haematologica, 2021

32241839 (PubMed )
Supplement: 2020_246629_GIANFERANTE_SUPPL_TABLES.xlsx › supp_table_3
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