Varaico: Literature-Extracted Genetic Variants

Gene:GCSAML
Variant:p.R30Splc
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GCSAML

NM_145278.5:p.R30Splc

Associated Papers

Familial mast cell-mediated angioedema: Description of 4 families.

Sabaté-Brescó M et al.

The Journal of Allergy and Clinical Immunology. in Practice, 2025

Sequence variant affects GCSAML splicing, mast cell specific proteins, and risk of urticaria.

Kristjansson RP et al.

Communications Biology, 2023

RET c.1901G>A and Novel SLC12A3 Mutations in Familial Pheochromocytomas

Zhao L et al.

Genes, 2022

35627249 (PubMed )
Supplement: genes-13-00864-s001.zip › Supplementary_Material_S2.The_information_of_annotated_gene_mutations2.xlsx › ___

A cross-population atlas of genetic associations for 220 human phenotypes.

Sakaue S et al.

Nature Genetics, 2021

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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."