Varaico: Literature-Extracted Genetic Variants

Gene:SLC2A1
Variant:p.K6_K7Splc
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SLC2A1

NM_006516.4:p.K6_K7Splc

Associated Papers

Genetic mutations in Parkinson's disease: screening of a selected population from North-Eastern Italy.

Bonato G et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025

39034353 (PubMed )
Supplement: 10072_2024_7690_MOESM1_ESM.docx

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."