Varaico: Literature-Extracted Genetic Variants

Gene:CAT
Variant:p.L51F
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CAT

NM_001752.4:p.L51F

Associated Papers

No mitochondrial DNA deletions but more D-loop point mutations in repeated pregnancy loss.

Seyedhassani SM et al.

Journal of Assisted Reproduction and Genetics, 2010

Mutations in the Delta7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome.

Fitzky BU et al.

Proceedings of the National Academy of Sciences of the United States of America, 1998

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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."