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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PAH

Variant:p.Q375_N376delFs

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PAH

NM_000277.3:p.Q375_N376delFs

hg38:chr12:102843718 TTTTG>T

Associated Papers

A recurrent c.953A>C (p. Gln318Pro) variant in ALG11 causing congenital disorder of glycosylation in Turkish population.

Kart PO et al.

Neurogenetics, 2025

40423864 (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."