Varaico: Literature-Extracted Genetic Variants

Gene:MID1
Variant:p.H517_T518insFs
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MID1

NM_000381.4:p.H517_T518insFs

Associated Papers

Opitz GBBB syndrome with total anomalous pulmonary venous connection: A new MID1 gene variant.

Perea-Cabrera M et al.

Molecular Genetics & Genomic Medicine, 2023

X-linked Opitz syndrome: novel mutations in the MID1 gene and redefinition of the clinical spectrum.

De Falco F et al.

American Journal of Medical Genetics. Part A, 2003

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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."