Varaico: Literature-Extracted Genetic Variants

Gene:SLC9A7
Variant:p.L515F
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SLC9A7

NM_032591.3:p.L515F

Associated Papers

A recurrent missense variant in SLC9A7 causes nonsyndromic X-linked intellectual disability with alteration of Golgi acidification and aberrant glycosylation.

Khayat W et al.

Human Molecular Genetics, 2019

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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."