Varaico: Literature-Extracted Genetic Variants

Gene:DYNAP
Variant:p.L93F
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DYNAP

NM_173629.3:p.L93F

Associated Papers

Mutations causing premature termination codons discriminate and generate cellular and clinical variability in HHT.

Bernabéu-Herrero ME et al.

Blood, 2024

38457357 (PubMed )
Supplement: BLOOD_BLD-2023-021777-mmc1.pdf

Overlap of nuclear localisation signal and specific DNA-binding residues within the zinc finger domain of PacC.

Fernández-Martínez J et al.

Journal of Molecular Biology, 2003

Five novel pathogenic FZD4 variants identified in familial exudative vitreoretinopathy.

Wang Y et al.

Advances in Ophthalmology Practice and Research, 0

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."