Varaico: Literature-Extracted Genetic Variants

Gene:ACTB
Variant:p.Q121*
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ACTB

NM_001101.5:p.Q121*

Associated Papers

Deficiency of the human cysteine protease inhibitor cystatin M/E causes hypotrichosis and dry skin.

van den Bogaard EHJ et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

30425301 (PubMed )
Supplement: 41436_2018_355_MOESM1_ESM.pdf
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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."