Varaico: Literature-Extracted Genetic Variants

Gene:BSCL2
Variant:p.V211M
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BSCL2

NM_001122955.4:p.V211M

Associated Papers

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.

Zhi Y et al.

Cns Neuroscience & Therapeutics, 2025

39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG17

Major Cardiac Events in Patients and Relatives With Hereditary Hypertrophic Cardiomyopathy.

Nielsen SK et al.

Jacc. Advances, 2023

38938358 (PubMed )
Supplement: mmc1.docx
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