Varaico: Literature-Extracted Genetic Variants

Gene:NFIX
Variant:p.S337_Q338delFs
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NFIX

NM_001365902.3:p.S337_Q338delFs

Associated Papers

[NFIX gene mutation causes Marshall-Smith syndrome in a pair of identical twins and literature review].

Lin XQ et al.

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2024

Further delineation of Malan syndrome.

Priolo M et al.

Human Mutation, 2018

Malan syndrome: Sotos-like overgrowth with de novo NFIX sequence variants and deletions in six new patients and a review of the literature.

Klaassens M et al.

European Journal of Human Genetics : Ejhg, 2015

Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome.

Malan V et al.

American Journal of Human Genetics, 2010

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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."