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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DIRAS1

Variant:p.L164L

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DIRAS1

NM_145173.4:p.L164L

hg38:chr19:2717317 G>A

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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