Varaico: Literature-Extracted Genetic Variants

Gene:PTBP3
Variant:p.Q381*
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PTBP3

NM_001163788.4:p.Q381*

Associated Papers

A mutation update for the FLNC gene in myopathies and cardiomyopathies.

Verdonschot JAJ et al.

Human Mutation, 2020

32112656 (PubMed )
Supplement: HUMU-41-1091-s001.pdf
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