Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.T236Splc
Back to variants list

PAH

NM_000277.3:p.T236Splc

Associated Papers

Spectrum of PAH gene mutations and genotype-phenotype correlation in patients with phenylalanine hydroxylase deficiency from Turkey.

Çınar M et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2022

Urinary dopamine in aromatic L-amino acid decarboxylase deficiency: the unsolved paradox.

Wassenberg T et al.

Molecular Genetics and Metabolism, 2010

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."