Varaico: Literature-Extracted Genetic Variants

Gene:ARSA
Variant:p.R99L
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ARSA

NM_000487.6:p.R99L

Associated Papers

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

Chen L et al.

International Journal of Genomics, 2018

ARSA gene mutations in five Chinese metachromatic leukodystrophy patients.

Wang J et al.

Pediatric Neurology, 2007

[Analysis of ARSA mutations in a Chinese family with metachromatic leukodystrophy].

Wang JM et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2006

[Molecular screening of the major mutations in the ARSA gene in patients with metachromatic leukodystrophy].

Horovenko NH et al.

Tsitologiia I Genetika, 0

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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."