Varaico: Literature-Extracted Genetic Variants

Gene:DTNBP1
Variant:p.G271Splc
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DTNBP1

NM_032122.5:p.G271Splc

Associated Papers

Genetic Analysis of Patients with Chronic Thromboembolic Pulmonary Hypertension (CTEPH): A Single-Center Observational Study.

Bereczky Z et al.

Genes, 2025

41300788 (PubMed )
Supplement: genes-16-01336-s001.zip › genes-3947445-supplementary.pdf

The co-occurrence of genetic variants in the TYR and OCA2 genes confers susceptibility to albinism.

Green DJ et al.

Nature Communications, 2024

39349469 (PubMed )
Supplement: 41467_2024_52763_MOESM1_ESM.pdf

The contribution of common regulatory and protein-coding TYR variants to the genetic architecture of albinism.

Michaud V et al.

Nature Communications, 2022

35803923 (PubMed )
Supplement: 41467_2022_31392_MOESM1_ESM.pdf
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