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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PCYT2

Variant:p.Q323_E324Splc

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PCYT2

NM_002861.5:p.Q323_E324Splc

hg38:chr17:81905377 C>T

Associated Papers

Unbiased phenotype and genotype matching maximizes gene discovery and diagnostic yield.

Rips J et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024

38193396 (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."