Varaico: Literature-Extracted Genetic Variants

Gene:SERPINA1
Variant:p.L90P
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SERPINA1

NM_000295.5:p.L90P

Associated Papers

Easy, rapid, and cost-effective methods for identifying carriers of recurrent GJB2 mutations causing nonsyndromic hearing impairment in the Greek population.

Kokotas H et al.

Genetic Testing and Molecular Biomarkers, 2010

Germline NF1 mutational spectra and loss-of-heterozygosity analyses in patients with pheochromocytoma and neurofibromatosis type 1.

Bausch B et al.

The Journal of Clinical Endocrinology and Metabolism, 2007

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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."