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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PTHLH

Variant:p.Q136*

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PTHLH

NM_198965.2:p.Q136*

hg38:chr12:27963466 G>A

Associated Papers

Clinical and Genetic Characteristics of Hypophosphatasia in Chinese Adults.

Li X et al.

Genes, 2023

37107680 (PubMed )

PLP1 Mutations in Patients with Multiple Sclerosis: Identification of a New Mutation and Potential Pathogenicity of the Mutations.

Cloake NC et al.

Journal of Clinical Medicine, 2018

30314286 (PubMed )

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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."