Varaico: Literature-Extracted Genetic Variants

Gene:PTBP1
Variant:p.M1R
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PTBP1

NM_002819.5:p.M1R

Associated Papers

PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia.

Masson A et al.

The Journal of Clinical Investigation, 2025

40965981 (PubMed )
Supplement: jci-135-182100-s294.xlsx › Table_S1
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