Varaico: Literature-Extracted Genetic Variants

Gene:BCAM
Variant:p.Q487R
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BCAM

NM_005581.5:p.Q487R

Associated Papers

Using whole-genome sequencing to characterize clinically significant blood groups among healthy older Australians.

Jadhao S et al.

Blood Advances, 2022

35420653 (PubMed )
Supplement: mmc1.xlsx › Supplementary_table3

A Germline Mutation in the C2 Domain of PLCγ2 Associated with Gain-of-Function Expands the Phenotype for PLCG2-Related Diseases.

Novice T et al.

Journal of Clinical Immunology, 2020

31853824 (PubMed )
Supplement: 10875_2019_731_MOESM1_ESM.xlsx › Sheet1
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