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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PANK2

Variant:p.R481P

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PANK2

NM_153638.4:p.R481P

hg38:chr20:3916956 G>C

Associated Papers

PANK2 and C19orf12 mutations are common causes of neurodegeneration with brain iron accumulation.

Dezfouli MA et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2013

23166001 (PubMed )

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