Varaico: Literature-Extracted Genetic Variants

Gene:SPATA31C2
Variant:p.R91K
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SPATA31C2

NM_001350978.3:p.R91K

Associated Papers

HAPLN3 p.T34A contributes to incomplete penetrance of moyamoya disease in Chinese carrying RNF213 p.R4810K.

Xu J et al.

European Journal of Neurology, 2024

39315749 (PubMed )
Supplement: ENE-31-e16473-s001.xlsx › Table_S2
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