Varaico: Literature-Extracted Genetic Variants

Gene:PABPN1
Variant:p.A5_A7ins1
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PABPN1

NM_004643.4:p.A5_A7ins1

Associated Papers

Adult genomic medicine: lessons from a multisite study of 2700 patients.

Bakur K et al.

Genome Medicine, 2025

41024252 (PubMed )
Supplement: 13073_2025_1529_MOESM1_ESM.xlsx › Sheet1

A de novo PABPN1 germline mutation in a patient with oculopharyngeal muscular dystrophy.

Gürtler N et al.

The Laryngoscope, 2006

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."