epidermal growth factor receptor substrate 15-like 1 isoform 2 [Homo s - Protein

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First direct evidence of involvement of a homozygous loss-of-function variant in the EPS15L1 gene underlying split-hand/split-foot malformation. [Clin Genet. 2018]
First direct evidence of involvement of a homozygous loss-of-function variant in the EPS15L1 gene underlying split-hand/split-foot malformation.
Umair M, Ullah A, Abbas S, Ahmad F, Basit S, Ahmad W. Clin Genet. 2018 Mar; 93(3):699-702. Epub 2018 Jan 25.
A de novo 1.1Mb microdeletion of chromosome 19p13.11 provides indirect evidence for EPS15L1 to be a strong candidate for split hand split foot malformation. [Eur J Med Genet. 2011]
A de novo 1.1Mb microdeletion of chromosome 19p13.11 provides indirect evidence for EPS15L1 to be a strong candidate for split hand split foot malformation.
Bens S, Haake A, Tönnies H, Vater I, Stephani U, Holterhus PM, Siebert R, Caliebe A. Eur J Med Genet. 2011 Sep-Oct; 54(5):e501-4. Epub 2011 Jun 7.
eps15 and eps15R are essential components of the endocytic pathway. [Cancer Res. 1997]
eps15 and eps15R are essential components of the endocytic pathway.
Carbone R, Fré S, Iannolo G, Belleudi F, Mancini P, Pelicci PG, Torrisi MR, Di Fiore PP. Cancer Res. 1997 Dec 15; 57(24):5498-504.

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NP_067058 [Domain Mapping of Disease Mut...]
NP_067058
Domain Mapping of Disease Mutations
Ensembl [Ensembl]
Ensembl
MODBASE, Database of Comparative Protein Structure Models (Sali Lab/UCSF) [MODBASE, Database of Comparat...]
MODBASE, Database of Comparative Protein Structure Models (Sali Lab/UCSF)
OncoMX cancer biomarker resource [OncoMX cancer biomarker resou...]
OncoMX cancer biomarker resource
Transcript/Protein Information [PANTHER Classification System]
Transcript/Protein Information
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reagents [ExactAntigen/Labome]
reagents
ExactAntigen/Labome

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