Varaico: Literature-Extracted Genetic Variants

Gene:SH3TC2
Variant:p.M1184V
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SH3TC2

NM_024577.4:p.M1184V

Associated Papers

Utilization of next-generation sequencing to define the role of heterozygous FOXN1 variants in immunodeficiency.

Pasternak Y et al.

The Journal of Allergy and Clinical Immunology. Global, 2024

38800615 (PubMed )
Supplement: mmc2.xlsx › P2-dominant

ACE Phenotyping in Human Blood and Tissues: Revelation of ACE Outliers and Sex Differences in ACE Sialylation.

Enyedi EE et al.

Biomedicines, 2024

38790902 (PubMed )
Supplement: biomedicines-12-00940-s001.zip › biomedicines-2930173-supplementary.pdf

Genetic diagnosis of Charcot-Marie-Tooth disease in a population by next-generation sequencing.

Høyer H et al.

Biomed Research International, 2014

25025039 (PubMed )
Supplement: 210401.f1.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."