Varaico: Literature-Extracted Genetic Variants

Gene:UGT1A1
Variant:p.H282D
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UGT1A1

NM_000463.3:p.H282D

Associated Papers

Systematic Review of Non-Coding Genomic Variants in Globin and Non-Globin Clusters and Their Impact on Phenotypic Severity in Thalassemia and Sickle Cell Disease.

Al-Subaie AM et al.

Journal of Clinical Medicine, 2026

41753033 (PubMed )
Supplement: jcm-15-01345-s001.zip › jcm-4040495-supplementary.pdf

A pilot study of assessing whole genome sequencing in newborn screening in unselected children in China.

Jian M et al.

Clinical and Translational Medicine, 2022

35665479 (PubMed )
Supplement: CTM2-12-e843-s002.xlsx › supplementary_table_10
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