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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NT5C2

Variant:p.S387Splc

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NT5C2

NM_001351169.2:p.S387Splc

hg38:chr10:103093137 A>C

Associated Papers

Diagnostic Yield of Trio Whole-Genome Sequencing in Children with Undiagnosed Developmental Delay or Congenital Anomaly: A Prospective Cohort Study.

Kim J et al.

Diagnostics (basel, Switzerland), 2024

39125556 (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."