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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:LCAT

Variant:p.S138N

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LCAT

NM_000229.2:p.S138N

hg38:chr16:67942875 C>T

Associated Papers

Red cell adenylate kinase deficiency in India: identification of two novel missense mutations (c.71A>G and c.413G>A).

Dongerdiye R et al.

Journal of Clinical Pathology, 2019

30918013 (PubMed )

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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."