Varaico: Literature-Extracted Genetic Variants

Gene:ASRGL1
Variant:p.L235L
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ASRGL1

NM_001083926.2:p.L235L

Associated Papers

Importance of deletion of T at nucleotide 1559 in the tissue-nonspecific alkaline phosphatase gene in Japanese patients with hypophosphatasia.

Orimo H et al.

Journal of Bone and Mineral Metabolism, 2002

A novel point mutation (C571T) in the tissue-non-specific alkaline phosphatase gene in a case of adult-type hypophosphatasia.

Watanabe H et al.

Oral Diseases, 2001

Hypophosphatasia: identification of five novel missense mutations (G507A, G705A, A748G, T1155C, G1320A) in the tissue-nonspecific alkaline phosphatase gene among Japanese patients.

Goseki-Sone M et al.

Human Mutation, 1998

Genetic analysis of hypophosphatasia.

Sato S et al.

Acta Paediatrica Japonica : Overseas Edition, 1997

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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."