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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MCF2

Variant:p.G745V

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MCF2

NM_005369.6:p.G745V

hg38:chrX:139596592 C>A

Associated Papers

Long-read genome sequencing and variant reanalysis increase diagnostic yield in neurodevelopmental disorders.

Hiatt SM et al.

Genome Research, 2024

39299904 (PubMed )

Long-read genome sequencing and variant reanalysis increase diagnostic yield in neurodevelopmental disorders.

Hiatt SM et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

38585854 (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."