Varaico: Literature-Extracted Genetic Variants

Gene:CFAP91
Variant:p.E264V
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CFAP91

NM_033364.4:p.E264V

Associated Papers

Genotypic Frequencies of Mutations Associated with Alpha-1 Antitrypsin Deficiency in Unrelated Bone Marrow Donors from the Murcia Region Donor Registry in the Southeast of Spain.

Cuenca I et al.

Diagnostics (basel, Switzerland), 2023

Cutoff level to detect heterozygous alpha 1 antitrypsin deficiency in Turkish population.

Simsek H et al.

Journal of Clinical Laboratory Analysis, 2011

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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."