Varaico: Literature-Extracted Genetic Variants

Gene:ETV6
Variant:p.P281L
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ETV6

NM_001987.5:p.P281L

Associated Papers

Phenylalanine hydroxylase mutations and phenylalanine-tyrosine metabolism in heterozygotes for phenylalanine hydroxylase deficiency.

Verduci E et al.

Acta Paediatrica (oslo, Norway : 1992), 2002

Aspartame loading test in PKU heterozygous individuals bearing severe and moderate mutations.

da Silva LC et al.

Clinical Genetics, 2000

Phenylketonuria mutations in Germany.

Zschocke J et al.

Human Genetics, 1999

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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."