Varaico: Literature-Extracted Genetic Variants

Gene:PTHLH
Variant:p.V11delFs
Back to variants list

PTHLH

NM_198965.2:p.V11delFs

Associated Papers

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

Coulter-Mackie MB et al.

Molecular Genetics and Metabolism, 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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."