Varaico: Literature-Extracted Genetic Variants

Gene:PPFIBP1
Variant:p.Q320_D321delFs
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PPFIBP1

NM_003622.4:p.Q320_D321delFs

Associated Papers

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_MOESM5_ESM.xlsx › Table_S4

Genomic and phenotypic delineation of congenital microcephaly.

Shaheen R et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

30214071 (PubMed )
Supplement: NIHMS1061370-supplement-1061370_Sup_MOESM2.xlsx › Sheet1
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