Varaico: Literature-Extracted Genetic Variants

Gene:PNPLA6
Variant:p.D1128N
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PNPLA6

NM_001166111.2:p.D1128N

Associated Papers

Novel variant in PNPLA6 gene causes Oliver-McFarlane syndrome in a Chinese family: 13 years follow-up.

Xiao P et al.

Frontiers in Genetics, 2025

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