Varaico: Literature-Extracted Genetic Variants

Gene:RYR1
Variant:p.D2252G
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RYR1

NM_000540.3:p.D2252G

Associated Papers

Whole-Exome Sequencing Reveals Rare Germline Mutations in Patients With Hemifacial Microsomia.

Chen X et al.

Frontiers in Genetics, 2021

34079577 (PubMed )
Supplement: Table_1.XLSX › Supplementary_table_1

Unraveling transformation of follicular lymphoma to diffuse large B-cell lymphoma.

González-Rincón J et al.

Plos One, 2019

30802265 (PubMed )
Supplement: pone.0212813.s010.xlsx › Tabla_S4.SNV___Indel
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