Varaico: Literature-Extracted Genetic Variants

Gene:ACY1
Variant:p.S192fs
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ACY1

NM_000666.3:p.S192fs

Associated Papers

Whole-exome sequencing identifies rare genetic variants associated with human plasma metabolites.

Bomba L et al.

American Journal of Human Genetics, 2022

Autozygome sequencing expands the horizon of human knockout research and provides novel insights into human phenotypic variation.

Alsalem AB et al.

Plos Genetics, 2013

24367280 (PubMed )
Supplement: pgen.1004030.s004.xlsx › Sheet1
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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."