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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PDC

Variant:p.E48G

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PDC

NM_002597.5:p.E48G

hg38:chr1:186446496 T>C

Associated Papers

Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology.

Sobering AK et al.

Hgg Advances, 2022

35469323 (PubMed )

Supplement: mmc2.xlsx › table_all_patients

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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."