Varaico: Literature-Extracted Genetic Variants

Gene:NARS1
Variant:p.L350P
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NARS1

NM_004539.4:p.L350P

Associated Papers

A novel pathogenic DICER1 gene variant is associated with hereditary multinodular goiter in an Argentine family as evidenced by clinical, biochemical and molecular genetic analysis.

Targovnik HM et al.

Endocrine, 2025

Aminoacyl-tRNA synthetase defects in neurological diseases.

Zhang H et al.

Iubmb Life, 2025

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