RecName: Full=Periphilin-1; AltName: Full=CDC7 expression repressor; S - Protein

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Periphilin self-association underpins epigenetic silencing by the HUSH complex. [Nucleic Acids Res. 2020]
Periphilin self-association underpins epigenetic silencing by the HUSH complex.
Prigozhin DM, Douse CH, Farleigh LE, Albecka A, Tchasovnikarova IA, Timms RT, Oda SI, Adolf F, Freund SMV, Maslen S, et al. Nucleic Acids Res. 2020 Oct 9; 48(18):10313-10328.
Identification of a novel locus associated with congenital recessive ichthyosis on 12p11.2-q13. [J Invest Dermatol. 2005]
Identification of a novel locus associated with congenital recessive ichthyosis on 12p11.2-q13.
Mizrachi-Koren M, Geiger D, Indelman M, Bitterman-Deutsch O, Bergman R, Sprecher E. J Invest Dermatol. 2005 Sep; 125(3):456-62.
Massive parallel sequencing uncovers actionable FGFR2-PPHLN1 fusion and ARAF mutations in intrahepatic cholangiocarcinoma. [Nat Commun. 2015]
Massive parallel sequencing uncovers actionable FGFR2-PPHLN1 fusion and ARAF mutations in intrahepatic cholangiocarcinoma.
Sia D, Losic B, Moeini A, Cabellos L, Hao K, Revill K, Bonal D, Miltiadous O, Zhang Z, Hoshida Y, et al. Nat Commun. 2015 Jan 22; 6:6087. Epub 2015 Jan 22.

RefSeq protein isoforms
See 61 reference sequence protein isoforms for the PPHLN1 gene.

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Q8NEY8 [Domain Mapping of Disease Mut...]
Q8NEY8
Domain Mapping of Disease Mutations
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