Varaico: Literature-Extracted Genetic Variants

Gene:PTGER4
Variant:p.S319F
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PTGER4

NM_000958.3:p.S319F

Associated Papers

Identification of a de novo variant in CHUK in a patient with an EEC/AEC syndrome-like phenotype and hypogammaglobulinemia.

Khandelwal KD et al.

American Journal of Medical Genetics. Part A, 2017

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."