Varaico: Literature-Extracted Genetic Variants

Gene:SLC29A3
Variant:p.P67_F70del4
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SLC29A3

NM_018344.6:p.P67_F70del4

Associated Papers

GenTIGS: a database empowering research and clinical insights on rare genetic disorders with an Indian perspective.

Rashid I et al.

Nar Genomics and Bioinformatics, 2025

41229399 (PubMed )
Supplement: lqaf143_supplemental_file.xls › Pathogenic

A novel start-loss mutation of the SLC29A3 gene in a consanguineous family with H syndrome: clinical characteristics, in silico analysis and literature review.

Rezaie N et al.

Bmc Medical Genomics, 2024

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