Varaico: Literature-Extracted Genetic Variants

Gene:GTPBP2
Variant:p.E509_I510delFs
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GTPBP2

NM_019096.5:p.E509_I510delFs

Associated Papers

Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome.

Salpietro V et al.

American Journal of Human Genetics, 2024

38118446 (PubMed )
Supplement: mmc2.xlsx › Sheet1
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