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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:EFTUD2

Variant:p.V587delFs

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EFTUD2

NM_004247.4:p.V587delFs

hg38:chr17:44860004 AAC>A

Associated Papers

Mandibulofacial dysostosis with microcephaly: A case presenting with seizures.

Matsuo M et al.

Brain & Development, 2017

27670155 (PubMed )

Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly.

Lines MA et al.

American Journal of Human Genetics, 2012

22305528 (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."