Varaico: Literature-Extracted Genetic Variants

Gene:DBR1
Variant:p.G29W
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DBR1

NM_016216.4:p.G29W

Associated Papers

Trichothiodystrophy-associated MPLKIP maintains DBR1 levels for proper lariat debranching and ectodermal differentiation.

Theil AF et al.

Embo Molecular Medicine, 2023

37800682 (PubMed )
Supplement: EMMM-15-e17973-s009.xlsx › Sayfa1
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