Varaico: Literature-Extracted Genetic Variants

Gene:PTHLH
Variant:p.V11insFs
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PTHLH

NM_198965.2:p.V11insFs

Associated Papers

Case series and literature review of primary hyperoxaluria type 1 in Chinese patients.

Wu J et al.

Urolithiasis, 2023

Genetic assessment in primary hyperoxaluria: why it matters.

Mandrile G et al.

Pediatric Nephrology (berlin, Germany), 2023

Genetic heterogeneity in primary hyperoxaluria type 1: impact on diagnosis.

Coulter-Mackie MB et al.

Molecular Genetics and Metabolism, 0

Molecular etiology of primary hyperoxaluria type 1: new directions for treatment.

Danpure CJ

American Journal of Nephrology, 0

The major allele of the alanine:glyoxylate aminotransferase gene: nine novel mutations and polymorphisms associated with primary hyperoxaluria type 1.

Coulter-Mackie MB et al.

Molecular Genetics and Metabolism, 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."