ER membrane protein complex subunit 1 isoform 3 precursor [Homo sapien - Protein

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Novel truncating and missense variants extending the spectrum of EMC1-related phenotypes, causing autism spectrum disorder, severe global development delay and visual impairment. [Eur J Med Genet. 2020]
Novel truncating and missense variants extending the spectrum of EMC1-related phenotypes, causing autism spectrum disorder, severe global development delay and visual impairment.
Cabet S, Lesca G, Labalme A, Des Portes V, Guibaud L, Sanlaville D, Pons L. Eur J Med Genet. 2020 Jun; 63(6):103897. Epub 2020 Feb 22.
EMC1-dependent stabilization drives membrane penetration of a partially destabilized non-enveloped virus. [Elife. 2016]
EMC1-dependent stabilization drives membrane penetration of a partially destabilized non-enveloped virus.
Bagchi P, Inoue T, Tsai B. Elife. 2016 Dec 24; 5. Epub 2016 Dec 24.
Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy. [Am J Hum Genet. 2016]
Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy.
Harel T, Yesil G, Bayram Y, Coban-Akdemir Z, Charng WL, Karaca E, Al Asmari A, Eldomery MK, Hunter JV, Jhangiani SN, et al. Am J Hum Genet. 2016 Mar 3; 98(3):562-570.

RefSeq genomic sequence
See the genomic reference sequence for the EMC1 gene (NG_032948.1).
RefSeq mRNA
See reference mRNA sequence for the EMC1 gene (NM_001271428.2).
RefSeq protein isoforms
See 6 reference sequence protein isoforms for the EMC1 gene.

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OncoMX cancer biomarker resource [OncoMX cancer biomarker resou...]
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