Varaico: Literature-Extracted Genetic Variants

Gene:FKRP
Variant:p.E324Q
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FKRP

NM_024301.5:p.E324Q

Associated Papers

Case Report: Mycosis fungoides as an exclusive manifestation of common variable immunodeficiency in a family with a NFKB2 gene mutation.

Spangenberg MN et al.

Frontiers in Oncology, 2023

37781189 (PubMed )
Supplement: Table_2.xlsx › Hoja1

Global FKRP Registry: observations in more than 300 patients with Limb Girdle Muscular Dystrophy R9.

Murphy LB et al.

Annals of Clinical and Translational Neurology, 2020

32342672 (PubMed )
Supplement: ACN3-7-757-s001.pdf
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