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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MID1

Variant:p.W552delFs

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MID1

NM_000381.4:p.W552delFs

hg38:chrX:10449715 AC>A

Associated Papers

Two Novel Pathogenic MID1 Variants and Genotype-Phenotype Correlation Reanalysis in X-Linked Opitz G/BBB Syndrome.

Maia N et al.

Molecular Syndromology, 2017

29456483 (PubMed )

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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."