Varaico: Literature-Extracted Genetic Variants

Gene:KATNIP
Variant:p.E627K
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KATNIP

NM_015202.5:p.E627K

Associated Papers

Selective loss of function variants in IL6ST cause Hyper-IgE syndrome with distinct impairments of T-cell phenotype and function.

Shahin T et al.

Haematologica, 2019

30309848 (PubMed )
Supplement: 2018.194233.SHAHIN_SUPPL.pdf
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