Varaico: Literature-Extracted Genetic Variants

Gene:QNG1
Variant:p.S97N
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QNG1

NM_032307.5:p.S97N

Associated Papers

A homozygous mutation in SLC1A4 in siblings with severe intellectual disability and microcephaly.

Srour M et al.

Clinical Genetics, 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."