Varaico: Literature-Extracted Genetic Variants

Gene:NFIX
Variant:p.R115Q
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NFIX

NM_001365902.3:p.R115Q

Associated Papers

Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability.

Chevarin M et al.

Journal of Medical Genetics, 2020

Genetic investigation of patients with tall stature.

Vasco de Albuquerque Albuquerque E et al.

European Journal of Endocrinology, 2020

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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."