Varaico: Literature-Extracted Genetic Variants

Gene:CYP11B1
Variant:p.L362L
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CYP11B1

NM_000497.4:p.L362L

Associated Papers

Chimeric Genes Causing 11β-Hydroxylase Deficiency: Implications in Clinical and Molecular Diagnosis.

Concolino P

Molecular Diagnosis & Therapy, 2024

Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review.

Chen W et al.

Frontiers in Neurology, 2022

36619910 (PubMed )
Supplement: Data_Sheet_3.ZIP › case-C › 3.________ › CA2245B________.__________________________________.xlsx › sheet1
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