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SPECC1L gene

Known as: KIAA0376, cytospin A, CYTSA 
National Institutes of Health

Papers overview

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2020
2020
A novel SPECC1L mutation causing Teebi hypertelorism syndrome: Expanding phenotypic and genetic spectrum.
2020
2020
SPECC1L regulates palate development downstream of IRF6.
SPECC1L mutations have been identified in patients with rare atypical orofacial clefts and with syndromic cleft lip and/or palate… 
Review
2019
Review
2019
Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes.
2019
2019
Novel SPECC1L-MET Fusion Detected in Circulating Tumor DNA in a Patient with Lung Adenocarcinoma following Treatment with Erlotinib and Osimertinib.
Review
2015
Review
2015
Expanding the SPECC1L mutation phenotypic spectrum to include Teebi hypertelorism syndrome
Teebi hypertelorism syndrome is a rare autosomal dominant disorder that has eluded a molecular etiology since first described in… 
2014
2014
Mutations in SPECC1L, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndrome
Background Opitz G/BBB syndrome is a heterogeneous disorder characterised by variable expression of midline defects including… 
2014
2014
Functional Analysis of SPECC1L in Craniofacial Development and Oblique Facial Cleft Pathogenesis
Background: Oblique facial clefts, also known as Tessier clefts, are severe orofacial clefts, the genetic basis of which is… 
Highly Cited
2011
Highly Cited
2011
Deficiency of the cytoskeletal protein SPECC1L leads to oblique facial clefting.
2009
2009
Proteomic study of human glioblastoma multiforme tissue employing complementary two-dimensional liquid chromatography- and mass spectrometry-based approaches.
An extensive data set comprising 2660 unique protein identifications was obtained for the proteome of a human brain tumor… 
2008
2008
Toward an early diagnosis of lung cancer: An autoantibody signature for squamous cell lung carcinoma
Serum‐based diagnosis offers the prospect of early lung carcinoma detection and of differentiation between benign and malignant… 
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