Related Experiment Video

Updated: Jun 21, 2025

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
07:15

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

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Allelic frequency of pathogenic α1-antitrypsin variants in the Japanese population: Results from a survey of open

Kuniaki Seyama1, Tadashi Sato1, Susumu Sato2

  • 1Department of Internal Medicine, Division of Respiratory Medicine, Juntendo University Faculty of Medicine and Graduate School of Medicine, 3-1-3 Hongo, Bunkyo-ku, Tokyo, 113-8431, Japan.

Respiratory Investigation
|July 12, 2024
PubMed

Keywords:
Allelic frequencyGenetic variantSERPINA1α(1)-antitrypsin deficiency

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