Varaico: Literature-Extracted Genetic Variants

Gene:MNX1
Variant:p.P18insFs
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MNX1

NM_005515.4:p.P18insFs

Associated Papers

First case of Currarino syndrome and trimethylaminuria: two rare diseases for a complex clinical presentation.

Scimone C et al.

Journal of Digestive Diseases, 2016

Novel MNX1 mutations and clinical analysis of familial and sporadic Currarino cases.

Merello E et al.

European Journal of Medical Genetics, 2013

A 5.8 kb deletion removing the entire MNX1 gene in a Norwegian family with Currarino syndrome.

Holm I et al.

Gene, 2013

Mutation analysis of the motor neuron and pancreas homeobox 1 (MNX1, former HLXB9) gene in Swedish patients with Currarino syndrome.

Zu S et al.

Journal of Pediatric Surgery, 2011

MNX1 (HLXB9) mutations in Currarino patients.

Garcia-Barceló MM et al.

Journal of Pediatric Surgery, 2009

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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."