Varaico: Literature-Extracted Genetic Variants

Gene:CHSY3
Variant:p.L366V
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CHSY3

NM_175856.5:p.L366V

Associated Papers

A novel mutation in SMARCB1 associated with adult Coffin-Siris syndrome and meningioma.

Guo Z et al.

Acta Biochimica Et Biophysica Sinica, 2024

39563460 (PubMed )
Supplement: Table_S1.case_details.xlsx › Sheet1
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