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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PAH

Variant:p.K42_E43delFs

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PAH

NM_000277.3:p.K42_E43delFs

hg38:chr12:102912829 CTTCT>C

Associated Papers

Prevalence of common autosomal recessive and X-linked conditions in pregnant women in Vietnam: a cross-sectional study.

Nguyen TT et al.

Scientific Reports, 2025

40447697 (PubMed )

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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."