Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.T323_I324Splc
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PAH

NM_000277.3:p.T323_I324Splc

Associated Papers

Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.

Jain R et al.

Genetics in Medicine Open, 2025

40893834 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_3

Expanding the comprehensive national neonatal screening programme in the United Arab Emirates from 1995 to 2011.

Al Hosani H et al.

Eastern Mediterranean Health Journal = La Revue De Sante De La Mediterranee Orientale = Al-majallah Al-sihhiyah Li-sharq Al-mutawassit, 2014

Identification of mutations underlying 20 inborn errors of metabolism in the United Arab Emirates population.

Ben-Rebeh I et al.

Genetic Testing and Molecular Biomarkers, 2012

Mutations of a country: a mutation review of single gene disorders in the United Arab Emirates (UAE).

Al-Gazali L et al.

Human Mutation, 2010

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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."