Varaico: Literature-Extracted Genetic Variants

Gene:TFR2
Variant:p.R698*
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TFR2

NM_003227.4:p.R698*

Associated Papers

The landscape of hereditary haemochromatosis risk and diagnosis across the British Isles and Ireland.

Kerr SM et al.

Nature Communications, 2026

41633988 (PubMed )
Supplement: 41467_2025_65511_MOESM3_ESM.xlsx › Sheet1

Diagnostic exome sequencing identifies GLI2 haploinsufficiency and chromosome 20 uniparental disomy in a patient with developmental anomalies.

Sajan SA et al.

Clinical Case Reports, 2018

29988648 (PubMed )
Supplement: CCR3-6-1208-s002.xlsx › Table_S1
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