Varaico: Literature-Extracted Genetic Variants

Gene:MID1
Variant:p.K288_V289Splc
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MID1

NM_000381.4:p.K288_V289Splc

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

Opitz syndrome: improving clinical interpretation of intronic variants in MID1 gene.

Micale L et al.

Pediatric Research, 2023

MID1 mutation screening in a large cohort of Opitz G/BBB syndrome patients: twenty-nine novel mutations identified.

Ferrentino R et al.

Human Mutation, 2007

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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."