Thirteen New Patients with Guanidinoacetate Methyltransferase Deficiency and Functional Characterization of Nineteen Novel Missense Variants in theGAMTGene

2014 ◽  
Vol 35 (4) ◽  
pp. 462-469 ◽  
Author(s):  
Saadet Mercimek-Mahmutoglu ◽  
Joseph Ndika ◽  
Warsha Kanhai ◽  
Thierry Billette de Villemeur ◽  
David Cheillan ◽  
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Keyword(s):  
Functional Characterization ◽  
Missense Variants ◽  
Guanidinoacetate Methyltransferase Deficiency

scholarly journals 166 Functional characterization of missense variants in ABCC6, the gene responsible for pseudoxanthoma elasticum

2021 ◽  
Vol 141 (5) ◽  
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J. Huang ◽  
L. Kowal ◽  
J. Singh ◽  
A.E. Snook ◽  
J. Uitto ◽  
...  
Keyword(s):  
Functional Characterization ◽  
Pseudoxanthoma Elasticum ◽  
Missense Variants

Arginine-Glycine Amidinotransferase Deficiency and Functional Characterization of Missense Variants inGATM

2016 ◽  
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pp. 926-932 ◽  
Author(s):  
Caro-Lyne DesRoches ◽  
Theodora Bruun ◽  
Peixiang Wang ◽  
Christian R. Marshall ◽  
Saadet Mercimek-Mahmutoglu
Keyword(s):  
Functional Characterization ◽  
Missense Variants

Functional characterization of missense variants in the creatine transporter gene (SLC6A8): improved diagnostic application

2007 ◽  
Vol 28 (9) ◽  
pp. 890-896 ◽  
Author(s):  
Efraim H. Rosenberg ◽  
Cristina Martínez Muñoz ◽  
Ofir T. Betsalel ◽  
Silvy J.M. van Dooren ◽  
Matilde Fernandez ◽  
...  
Keyword(s):  
Functional Characterization ◽  
Transporter Gene ◽  
Creatine Transporter ◽  
Diagnostic Application ◽  
Missense Variants

scholarly journals 291 Functional characterization of ABCC6 missense variants implicated in pseudoxanthoma elasticum

2020 ◽  
Vol 140 (7) ◽  
pp. S35
Author(s):  
L. Kowal ◽  
J. Huang ◽  
I. Jacobs ◽  
H. Luo ◽  
J. Uitto ◽  
...  
Keyword(s):  
Functional Characterization ◽  
Pseudoxanthoma Elasticum ◽  
Missense Variants

scholarly journals Functional characterization of DYRK1A missense variants associated with a syndromic form of intellectual deficiency and autism

Biology Open ◽  
2018 ◽  
Vol 7 (4) ◽  
pp. bio032862 ◽  
Author(s):  
Esti Wahyu Widowati ◽  
Sabrina Ernst ◽  
Ralf Hausmann ◽  
Gerhard Müller-Newen ◽  
Walter Becker
Keyword(s):  
Functional Characterization ◽  
Intellectual Deficiency ◽  
Missense Variants

Identification of 34 novel mutations in propionic acidemia: Functional characterization of missense variants and phenotype associations

2018 ◽  
Vol 125 (3) ◽  
pp. 266-275 ◽  
Author(s):  
Ana Rivera-Barahona ◽  
Rosa Navarrete ◽  
Raquel García-Rodríguez ◽  
Eva Richard ◽  
Magdalena Ugarte ◽  
...  
Keyword(s):  
Functional Characterization ◽  
Propionic Acidemia ◽  
Novel Mutations ◽  
Missense Variants

Clinical and functional characterization of recurrent missense variants implicated inTHOC6-related intellectual disability

2018 ◽  
Vol 28 (6) ◽  
pp. 952-960 ◽  
Author(s):  
Francesca Mattioli ◽  
Bertrand Isidor ◽  
Omar Abdul-Rahman ◽  
Andrew Gunter ◽  
Lijia Huang ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Functional Characterization ◽  
Missense Variants

scholarly journals CYP2C9 and CYP2C19 : Deep Mutational Scanning and Functional Characterization of Genomic Missense Variants

2020 ◽  
Vol 13 (4) ◽  
pp. 727-742
Author(s):  
Lingxin Zhang ◽  
Vivekananda Sarangi ◽  
Irene Moon ◽  
Jia Yu ◽  
Duan Liu ◽  
...  
Keyword(s):  
Functional Characterization ◽  
Missense Variants
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