Varaico: Literature-Extracted Genetic Variants

Gene:SIGLEC1
Variant:p.E88*
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SIGLEC1

NM_023068.4:p.E88*

Associated Papers

Rare CRHR2 and GRM8 variants identified as candidate factors associated with eating disorders in Japanese patients by whole exome sequencing.

Oka A et al.

Heliyon, 2024

38644811 (PubMed )
Supplement: mmc2.pdf

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

Dissemination of Mycobacterium tuberculosis is associated to a SIGLEC1 null variant that limits antigen exchange via trafficking extracellular vesicles.

Benet S et al.

Journal of Extracellular Vesicles, 2021

A Vietnamese human genetic variation database.

Le VS et al.

Human Mutation, 2019

Identification of Siglec-1 null individuals infected with HIV-1.

Martinez-Picado J et al.

Nature Communications, 2016

Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.

Cereda M et al.

Nature Communications, 2016

27377421 (PubMed )
Supplement: ncomms12072-s6.xlsx › Supplementary_Data_5

Analysis of Low Frequency Protein Truncating Stop-Codon Variants and Fasting Concentration of Growth Hormone.

Hallengren E et al.

Plos One, 2015

26086970 (PubMed )
Supplement: pone.0128348.s002.xlsx › Sheet1
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