Mediator complex subunit 17 [Homo sapiens]

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An expansion of phenotype: novel homozygous variant in the MED17 identified in patients with progressive microcephaly and global developmental delay. [J Neurogenet. 2022]
An expansion of phenotype: novel homozygous variant in the MED17 identified in patients with progressive microcephaly and global developmental delay.
Rafiullah R, Albalawi AM, Alaradi SR, Alluqmani M, Mushtaq M, Wali A, Basit S. J Neurogenet. 2022 Sep-Dec; 36(4):108-114. Epub 2022 Dec 12.
Increased unfolded protein responses caused by MED17 mutations. [Neurogenetics. 2021]
Increased unfolded protein responses caused by MED17 mutations.
Terabayashi T, Hashimoto S. Neurogenetics. 2021 Oct; 22(4):353-357. Epub 2021 Aug 15.
Delineation of the phenotype of MED17-related disease in Caucasus-Jewish families. [Eur J Paediatr Neurol. 2021]
Delineation of the phenotype of MED17-related disease in Caucasus-Jewish families.
Fattal-Valevski A, Ben Sira L, Lerman-Sagie T, Strausberg R, Bloch-Mimouni A, Edvardson S, Kaufman R, Chernuha V, Schneebaum Sender N, Heimer G, et al. Eur J Paediatr Neurol. 2021 May; 32:40-45. Epub 2021 Mar 5.

RefSeq genomic sequence
See the genomic reference sequence for the MED17 gene (NG_028028.1).
RefSeq protein
See the reference protein sequence for mediator of RNA polymerase II transcription subunit 17 (NP_004259.3).

Nucleotide
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Transcript/Protein Information [PANTHER Classification System]
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PANTHER Classification System
reagents [ExactAntigen/Labome]
reagents
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Mediator complex subunit 17 [Homo sapiens]
Mediator complex subunit 17 [Homo sapiens]
gi|18089270|gb|AAH21101.1|

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