Varaico: Literature-Extracted Genetic Variants

Gene:CAT
Variant:p.M1L
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CAT

NM_001752.4:p.M1L

Associated Papers

Alpha B-Crystallin in Muscle Disease Prevention: The Role of Physical Activity.

Dimauro I et al.

Molecules (basel, Switzerland), 2022

Molecular background of polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome in a Polish population: novel AIRE mutations and an estimate of disease prevalence.

Stolarski B et al.

Clinical Genetics, 2006

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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."