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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MEGF8

Variant:p.M766_E767Splc

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MEGF8

NM_001271938.2:p.M766_E767Splc

hg38:chr19:42348473 G>A

Associated Papers

The phenotype of MEGF8-related Carpenter syndrome (CRPT2) is refined through the identification of eight new patients.

Watts LM et al.

European Journal of Human Genetics : Ejhg, 2024

38760421 (PubMed )

Supplement: 41431_2024_1624_MOESM1_ESM.docx

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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."