Varaico: Literature-Extracted Genetic Variants

Gene:RPL35A
Variant:p.N55Splc
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RPL35A

NM_000996.4:p.N55Splc

Associated Papers

DNA Methylation Episignature as a Novel Diagnostic Tool for Diamond-Blackfan Anemia Syndrome.

Quarello P et al.

American Journal of Hematology, 2026

41247002 (PubMed )
Supplement: AJH-101-228-s001.docx

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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