Biallelic variants in WARS1 cause a highly variable neurodevelopmental syndrome and implicate a critical exon for normal auditory function

Biallelic variants in WARS1 cause a highly variable neurodevelopmental syndrome and implicate a critical exon for normal auditory function

<p dir="ltr">Aminoacyl-tRNA synthetases (ARSs) are essential enzymes for faithful assignment of amino acids to their cognate tRNA. Variants in ARS genes are frequently associated with clinically heterogeneous phenotypes in humans and follow both autosomal dominant or recessive inheri...

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محفوظ في:
التفاصيل البيبلوغرافية
المؤلف الرئيسي: Sheng‐Jia Lin (18877600) (author)
مؤلفون آخرون: Barbara Vona (5237843) (author), Hillary M. Porter (18877603) (author), Mahmoud Izadi (12899508) (author), Kevin Huang (147764) (author), Yves Lacassie (6034238) (author), Jill A. Rosenfeld (9606199) (author), Saadullah Khan (5735540) (author), Cassidy Petree (17487198) (author), Tayyiba A. Ali (18131836) (author), Nazif Muhammad (15891860) (author), Sher A. Khan (18877606) (author), Noor Muhammad (820180) (author), Pengfei Liu (136115) (author), Marie‐Louise Haymon (18877609) (author), Franz Rüschendorf (73756) (author), Il‐Keun Kong (18877612) (author), Linda Schnapp (18718837) (author), Natasha Shur (18877615) (author), Lynn Chorich (18877618) (author), Lawrence Layman (3521192) (author), Thomas Haaf (342924) (author), Ehsan Pourkarimi (541179) (author), Hyung‐Goo Kim (14776987) (author), Gaurav K. Varshney (10671462) (author)
منشور في: 2022
الموضوعات:
Biomedical and clinical sciences
Clinical sciences
Neurosciences
autosomal recessive
biallelic variants
C. elegans
translation initiation sites
tryptophanyl‐tRNA synthetase 1 (WARS1)
WHEP domain
zebrafish
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