Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.L293M
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PAH

NM_000277.3:p.L293M

Associated Papers

Structural and functional analyses of mutations of the human phenylalanine hydroxylase gene.

Kim SW et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2006

The molecular basis of phenylketonuria in Koreans.

Lee DH et al.

Journal of Human Genetics, 2004

Reversing the substrate specificities of phenylalanine and tyrosine hydroxylase: aspartate 425 of tyrosine hydroxylase is essential for L-DOPA formation.

Daubner SC et al.

Biochemistry, 2000

Identical SRY mutations with different phenotypic effects.

Mittwoch U

American Journal of Human Genetics, 1993

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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."