folliculin-interacting protein 1 isoform 3 [Homo sapiens]

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Familial multiple discoid fibromas is linked to a locus on chromosome 5 including the FNIP1 gene. [J Hum Genet. 2023]
Familial multiple discoid fibromas is linked to a locus on chromosome 5 including the FNIP1 gene.
van de Beek I, Glykofridis IE, Tanck MWT, Luijten MNH, Starink TM, Balk JA, Johannesma PC, Hennekam E, van den Hoff MJB, Gunst QD, et al. J Hum Genet. 2023 Apr; 68(4):273-279. Epub 2023 Jan 4.
Absent B cells, agammaglobulinemia, and hypertrophic cardiomyopathy in folliculin-interacting protein 1 deficiency. [Blood. 2021]
Absent B cells, agammaglobulinemia, and hypertrophic cardiomyopathy in folliculin-interacting protein 1 deficiency.
Saettini F, Poli C, Vengoechea J, Bonanomi S, Orellana JC, Fazio G, Rodriguez FH, Noguera LP, Booth C, Jarur-Chamy V, et al. Blood. 2021 Jan 28; 137(4):493-499.
Mutations of the gene FNIP1 associated with a syndromic autosomal recessive immunodeficiency with cardiomyopathy and pre-excitation syndrome. [Eur J Immunol. 2020]
Mutations of the gene FNIP1 associated with a syndromic autosomal recessive immunodeficiency with cardiomyopathy and pre-excitation syndrome.
Niehues T, Özgür TT, Bickes M, Waldmann R, Schöning J, Bräsen J, Hagel C, Ballmaier M, Klusmann JH, Niedermayer A, et al. Eur J Immunol. 2020 Jul; 50(7):1078-1080. Epub 2020 Apr 20.

RefSeq mRNA
See reference mRNA sequence for the FNIP1 gene (NM_001346113.2).
RefSeq protein isoforms
See 4 reference sequence protein isoforms for the FNIP1 gene.

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Protein