Varaico: Literature-Extracted Genetic Variants

Gene:GTPBP2
Variant:p.Q412_V413Splc
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GTPBP2

NM_019096.5:p.Q412_V413Splc

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

Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort.

Bertoli-Avella AM et al.

European Journal of Human Genetics : Ejhg, 2021

What is the right sequencing approach? Solo VS extended family analysis in consanguineous populations.

Alfares A et al.

Bmc Medical Genomics, 2020

32680510 (PubMed )
Supplement: 12920_2020_743_MOESM3_ESM.xlsx › Sheet1

Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics.

Maddirevula S et al.

Genome Biology, 2020

32552793 (PubMed )
Supplement: 13059_2020_2053_MOESM3_ESM.xlsx › Table_S2
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