Varaico: Literature-Extracted Genetic Variants

Gene:ARSA
Variant:p.Q155Q
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ARSA

NM_000487.6:p.Q155Q

Associated Papers

Biochemical and molecular analysis of pediatric patients with metachromatic leukodystrophy in South China: functional characterization of five novel ARSA variants.

Li T et al.

Metabolic Brain Disease, 2024

Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology.

Xi Y et al.

Molecular Genetics & Genomic Medicine, 2020

32573981 (PubMed )
Supplement: MGG3-8-e1340-s004.pdf

Identification of Novel ARSA Mutations in Chinese Patients with Metachromatic Leukodystrophy.

Chen L et al.

International Journal of Genomics, 2018

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."