Title : Clinical Spectrum and Functional Consequences Associated with Bi-Allelic Pathogenic PNPT1 Variants.

Pub. Date : 2019 Nov 19

PMID : 31752325






2 Functional Relationships(s)
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Protein Name
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1 Clinical Spectrum and Functional Consequences Associated with Bi-Allelic Pathogenic PNPT1 Variants. Bismuth polyribonucleotide nucleotidyltransferase 1 Homo sapiens
2 Bi-allelic pathogenic PNPT1 variants cause heterogeneous clinical phenotypes affecting multiple organs without any established genotype-phenotype correlations. Bismuth polyribonucleotide nucleotidyltransferase 1 Homo sapiens