Varaico: Literature-Extracted Genetic Variants

Gene:PLCB2
Variant:p.N86K
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PLCB2

NM_004573.3:p.N86K

Associated Papers

Sequencing of a Chinese tetralogy of Fallot cohort reveals clustering mutations in myogenic heart progenitors.

Tang CSM et al.

Jci Insight, 2022

34905512 (PubMed )
Supplement: jciinsight-7-152198-s012.xlsx › SupplTable7._Rec_CADD20

Clinical and Genetic Analysis of CHD7 Expands the Genotype and Phenotype of CHARGE Syndrome.

Qin Z et al.

Frontiers in Genetics, 2020

32625235 (PubMed )
Supplement: Data_Sheet_1.zip › Supplementary_Table_2.XLSX › patient_1
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