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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ELANE

Variant:p.L227_P229del3

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ELANE

NM_001972.4:p.L227_P229del3

hg38:chr19:856038 GCTCTACCCC>G

Associated Papers

Rare variants in alpha 1 antitrypsin deficiency: a systematic literature review.

Ferrarotti I et al.

Orphanet Journal of Rare Diseases, 2024

38388492 (PubMed )

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