Homo sapiens patatin like phospholipase domain containing 1 (PNPLA1), - Nucleotide

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Expanding the molecular and clinical spectrum of autosomal recessive congenital ichthyosis caused by pathogenic variants in NIPAL4 and PNPLA1 and evaluation of novel therapeutic interventions. [J Eur Acad Dermatol Venereol. ...]
Expanding the molecular and clinical spectrum of autosomal recessive congenital ichthyosis caused by pathogenic variants in NIPAL4 and PNPLA1 and evaluation of novel therapeutic interventions.
Rossel SVJ, Clabbers JMK, Steijlen PM, van den Akker PC, Spuls PI, Middelkamp Hup MA, van Maarle MC, Vreeburg M, Bolling MC, van Geel M, et al. J Eur Acad Dermatol Venereol. 2023 Dec; 37(12):e1405-e1409. Epub 2023 Jul 24.
Impaired production of skin barrier lipid acylceramides and abnormal localization of PNPLA1 due to ichthyosis-causing mutations in PNPLA1. [J Dermatol Sci. 2022]
Impaired production of skin barrier lipid acylceramides and abnormal localization of PNPLA1 due to ichthyosis-causing mutations in PNPLA1.
Nohara T, Ohno Y, Kihara A. J Dermatol Sci. 2022 Aug; 107(2):89-94. Epub 2022 Aug 4.
Dual proteome-scale networks reveal cell-specific remodeling of the human interactome. [Cell. 2021]
Dual proteome-scale networks reveal cell-specific remodeling of the human interactome.
Huttlin EL, Bruckner RJ, Navarrete-Perea J, Cannon JR, Baltier K, Gebreab F, Gygi MP, Thornock A, Zarraga G, Tam S, et al. Cell. 2021 May 27; 184(11):3022-3040.e28. Epub 2021 May 6.

RefSeq alternative splicing
See 10 reference mRNA sequence splice variants for the PNPLA1 gene.
RefSeq protein product
See the reference protein sequence for omega-hydroxyceramide transacylase isoform 1 (NP_775947.2).

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Homo sapiens colipase (CLPS), transcript variant 2, mRNA
Homo sapiens colipase (CLPS), transcript variant 2, mRNA
gi|1676317362|ref|NM_001252597.2|

Nucleotide

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Nucleotide