Varaico: Literature-Extracted Genetic Variants

Gene:JAM2
Variant:p.P142insFs
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JAM2

NM_021219.4:p.P142insFs

Associated Papers

JAM2 variants can be more common in primary familial brain calcification (PFBC) cases than those appear; may be due to a founder mutation.

Khojasteh M et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2024

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