Associated Papers
XP-J, a ninth xeroderma pigmentosum complementation group, results from mutations in GTF2H4, encoding TFIIH-p52 subunit.
Fassihi H et al.
The Journal of Clinical Investigation, 2025
TFIIH-p52ΔC defines a ninth xeroderma pigmentosum complementation-group XP-J and restores TFIIH stability to p8-defective trichothiodystrophy.
Nakazawa Y et al.
The Journal of Clinical Investigation, 2025
Population-based targeted sequencing of 54 candidate genes identifies PALB2 as a susceptibility gene for high-grade serous ovarian cancer.
Song H et al.
Journal of Medical Genetics, 2021
32546565 (PubMed )
Supplement: jmedgenet-2019-106739supp001.xlsx › Supp._Table_3
Molecular heterogeneity of beta-thalassemia in Algeria: how to face up to a major health problem.
Boudrahem-Addour N et al.
Hemoglobin, 2009
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