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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GINS4

Variant:p.V171M

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GINS4

NM_032336.3:p.V171M

hg38:chr8:41541835 G>A

Associated Papers

Expanding the phenotypic and genetic landscape of congenital neutropenia through whole-exome and genome sequencing.

Marti S et al.

Hemasphere, 2025

40510848 (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."