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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SFPQ

Variant:p.M579_I580del2

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SFPQ

NM_005066.3:p.M579_I580del2

hg38:chr1:35188047 GAATCAT>G

Associated Papers

Partial loss-of-function mutations in GINS4 lead to NK cell deficiency with neutropenia.

Conte MI et al.

Jci Insight, 2022

36345943 (PubMed )

Supplement: jciinsight-7-154948-s241.pdf

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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."