Varaico: Literature-Extracted Genetic Variants

Gene:ADGRB2
Variant:p.G516R
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ADGRB2

NM_001364857.2:p.G516R

Associated Papers

SPTLC2 variants are associated with early-onset ALS and FTD due to aberrant sphingolipid synthesis.

Naruse H et al.

Annals of Clinical and Translational Neurology, 2024

38316966 (PubMed )
Supplement: ACN3-11-946-s001.pdf
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