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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NSD1

Variant:p.F1105_S1106delFs

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NSD1

NM_022455.5:p.F1105_S1106delFs

hg38:chr5:177211710 ATT>A

Associated Papers

Molecular diagnosis and novel genes and phenotypes in a pediatric thoracic insufficiency cohort.

Strong A et al.

Scientific Reports, 2023

36653407 (PubMed )

Supplement: 41598_2023_27641_MOESM2_ESM.xlsx › Sheet1

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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."