Varaico: Literature-Extracted Genetic Variants

Gene:EFTUD2
Variant:p.I524_C525del2
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EFTUD2

NM_004247.4:p.I524_C525del2

Associated Papers

The impact of inversions across 33,924 families with rare disease from a national genome sequencing project.

Pagnamenta AT et al.

American Journal of Human Genetics, 2024

38776926 (PubMed )
Supplement: mmc4.pdf
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