Varaico: Literature-Extracted Genetic Variants

Gene:BPTF
Variant:p.G38V
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BPTF

NM_182641.4:p.G38V

Associated Papers

Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition.

Mirzaa GM et al.

Nature Communications, 2025

41213919 (PubMed )
Supplement: 41467_2025_64838_MOESM5_ESM.xlsx › Mirzaa_et_al_Suppl_Data_File_2
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