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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PCNT

Variant:p.H164Y

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PCNT

NM_006031.6:p.H164Y

hg38:chr21:46334619 C>T

Associated Papers

Aicardi-Goutières Syndrome with Congenital Glaucoma Caused by Novel TREX1 Mutation.

Świerczyńska M et al.

Journal of Personalized Medicine, 2023

38003924 (PubMed )

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