Varaico: Literature-Extracted Genetic Variants

Gene:MID1
Variant:p.P351delFs
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MID1

NM_000381.4:p.P351delFs

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

Clinical and molecular studies of patients with characteristics of Opitz G/BBB syndrome shows a novel MID1 mutation.

Hsieh EW et al.

American Journal of Medical Genetics. Part A, 2008

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

New mutations in MID1 provide support for loss of function as the cause of X-linked Opitz syndrome.

Cox TC et al.

Human Molecular Genetics, 2000

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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."