patatin-like phospholipase domain-containing protein 6 isoform b [Homo - Protein

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Two case reports of a novel missense mutation in the PNPLA6 gene in two siblings with chorioretinal dystrophy, hypogonadotropic hypogonadism, and cerebellar ataxia. [Mol Biol Rep. 2024]
Two case reports of a novel missense mutation in the PNPLA6 gene in two siblings with chorioretinal dystrophy, hypogonadotropic hypogonadism, and cerebellar ataxia.
Liampas A, Nicolaou P, Votsi C, Georghiou A, Christodoulou K, Tanteles GA, Pantzaris M. Mol Biol Rep. 2024 Apr 29; 51(1):590. Epub 2024 Apr 29.
The alteration of the expression level of neuropathy target esterase in human neuroblastoma SK-N-SH cells disrupts cellular phospholipids homeostasis. [Toxicol In Vitro. 2023]
The alteration of the expression level of neuropathy target esterase in human neuroblastoma SK-N-SH cells disrupts cellular phospholipids homeostasis.
Hou WY, Song X, Wang Y, Chang P, Chen R, Wu YJ. Toxicol In Vitro. 2023 Feb; 86:105509. Epub 2022 Nov 4.
Oliver McFarlane syndrome: two new cases and a review of the literature. [Ophthalmic Genet. 2021]
Oliver McFarlane syndrome: two new cases and a review of the literature.
Lisbjerg K, Andersen MKG, Bertelsen M, Brost AG, Buchvald FF, Jensen RB, Bisgaard AM, Rosenberg T, Tümer Z, Kessel L. Ophthalmic Genet. 2021 Aug; 42(4):464-473. Epub 2021 Apr 5.

RefSeq genomic sequence
See the genomic reference sequence for the PNPLA6 gene (NG_013374.1).
RefSeq mRNA
See reference mRNA sequence for the PNPLA6 gene (NM_006702.5).
RefSeq protein isoforms
See 5 reference sequence protein isoforms for the PNPLA6 gene.

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Ensembl
OncoMX cancer biomarker resource [OncoMX cancer biomarker resou...]
OncoMX cancer biomarker resource
Transcript/Protein Information [PANTHER Classification System]
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reagents [ExactAntigen/Labome]
reagents
ExactAntigen/Labome

Homo sapiens SNRPN upstream open reading frame (SNURF), transcript variant 2, mR...
Homo sapiens SNRPN upstream open reading frame (SNURF), transcript variant 2, mRNA
gi|1677529714|ref|NM_022804.3|

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