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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MTM1

Variant:p.T430insFs

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MTM1

NM_000252.3:p.T430insFs

hg38:chrX:150659690 C>CAT

Associated Papers

Utility of expanded carrier screening in pregnancies with ultrasound abnormalities.

Stevens BK et al.

Prenatal Diagnosis, 2022

34792213 (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."