Varaico: Literature-Extracted Genetic Variants

Gene:ACE
Variant:p.E78delFs
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ACE

NM_000789.4:p.E78delFs

Associated Papers

Identification of two novel mutations in SLC12A3 gene in two Chinese pedigrees with Gitelman syndrome and review of literature.

Li C et al.

Clinical Endocrinology, 2015

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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."