Varaico: Literature-Extracted Genetic Variants

Gene:EIF3J
Variant:p.D15Splc
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EIF3J

NM_003758.4:p.D15Splc

Associated Papers

A patient with multisystem dysfunction carries a truncation mutation in human SLC12A2, the gene encoding the Na-K-2Cl cotransporter, NKCC1.

Delpire E et al.

Cold Spring Harbor Molecular Case Studies, 2016

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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."