Varaico: Literature-Extracted Genetic Variants

Gene:MNX1
Variant:p.R243W
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MNX1

NM_005515.4:p.R243W

Associated Papers

Presacral neuroendocrine tumors associated with the Currarino syndrome.

Scott AT et al.

American Journal of Medical Genetics. Part A, 2021

Currarino Syndrome: A Rare Condition With Potential Connection to Neuroendocrine Tumors.

Liu AJ et al.

Pancreas, 2020

Spectrum of MNX1 Pathogenic Variants and Associated Clinical Features in Korean Patients with Currarino Syndrome.

Lee S et al.

Annals of Laboratory Medicine, 2018

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

Merello E et al.

European Journal of Medical Genetics, 2013

Currarino syndrome with pelvic neuroendocrine tumor diagnosed by post-mortem genetic analysis of tissue specimens.

Ciotti P et al.

American Journal of Medical Genetics. Part A, 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."