Specifications of ACMG AMP Variant Curation Guidelines for the Analysis of FOXN1 Sequence Variants Recommendations by ClinGen’s Severe Combined Immunodeficiency Disease
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Pdf Summary
Keywords
FOXN1 Variant Curation Guidelines
Severe Combined Immunodeficiency
SCID
Variant classification
Interpretation
Population frequency
Variant impacts
Functional effects
Phenotypic features
Functional assays

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