Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.G12delFs
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PAH

NM_000277.3:p.G12delFs

Associated Papers

Founder Variants of the Turkish.

Kablan A

Clinical Genetics, 2026

The Landscape of Genetic Variation and Disease Risk in Romania: A Single-Center Study of Autosomal Recessive Carrier Frequencies and Molecular Variants.

Gug M et al.

International Journal of Molecular Sciences, 2025

41303398 (PubMed )
Supplement: ijms-26-10912-s001.zip › Table_S1.pdf

Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels.

Kanavy DM et al.

Genome Medicine, 2019

31783775 (PubMed )
Supplement: 13073_2019_683_MOESM2_ESM.xlsx › Table_S4_Hearing_Loss_A

[Genomic structure and DNA diagnosis of hereditary monogenic diseases in the Volga-Ural region].

Khidiiatova IM et al.

Molekuliarnaia Biologiia, 0

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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."