Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.F149delFs
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PAH

NM_000277.3:p.F149delFs

Associated Papers

A pilot study of assessing whole genome sequencing in newborn screening in unselected children in China.

Jian M et al.

Clinical and Translational Medicine, 2022

35665479 (PubMed )
Supplement: CTM2-12-e843-s002.xlsx › supplementary_table_10

Spectrum analysis of inborn errors of metabolism for expanded newborn screening in a northwestern Chinese population.

Zhang R et al.

Scientific Reports, 2021

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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."