Varaico: Literature-Extracted Genetic Variants

Gene:SLC30A5
Variant:p.H661delFs
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SLC30A5

NM_022902.5:p.H661delFs

Associated Papers

Loss of Nexilin function leads to a recessive lethal fetal cardiomyopathy characterized by cardiomegaly and endocardial fibroelastosis.

Johansson J et al.

American Journal of Medical Genetics. Part A, 2022

Bi-allelic loss of function variants in SLC30A5 as cause of perinatal lethal cardiomyopathy.

Lieberwirth JK et al.

European Journal of Human Genetics : Ejhg, 2021

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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."