Varaico: Literature-Extracted Genetic Variants

Gene:MNX1
Variant:p.G112insFs
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MNX1

NM_005515.4:p.G112insFs

Associated Papers

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

Holm I et al.

Gene, 2013

Holoprosencephaly: report of four cases and genotype-phenotype correlations.

Lami F et al.

Journal of Genetics, 2013

Adult index patient with Currarino syndrome due to a novel HLXB9 mutation, c.336dupG (p.P113fsX224), presenting with Hirschsprung's disease, cephalgia, and lumbodynia.

Volk A et al.

Birth Defects Research. Part A, Clinical and Molecular Teratology, 2007

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