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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PRF1

Variant:p.C257*

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PRF1

NM_001083116.3:p.C257*

hg38:chr10:70598950 G>T

Associated Papers

Beyond genotype: challenges in predicting disease risk for carriers of biallelic perforin variants.

Wegehaupt O et al.

Blood, 2025

40090000 (PubMed )

Supplement: BLOOD_BLD-2024-027954-mmc2.xlsx › Suppl._table_1

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