Varaico: Literature-Extracted Genetic Variants

Gene:RIC8A
Variant:p.H272Q
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RIC8A

NM_001286134.2:p.H272Q

Associated Papers

Ichthyosis: case report in a Colombian man with genetic alterations in ABCA12 and HRNR genes.

Arias-Pérez RD et al.

Bmc Medical Genomics, 2021

34039366 (PubMed )
Supplement: 12920_2021_987_MOESM1_ESM.docx

Germline Mutation in MUS81 Resulting in Impaired Protein Stability is Associated with Familial Breast and Thyroid Cancer.

Pinheiro M et al.

Cancers, 2020

32443704 (PubMed )
Supplement: cancers-12-01289-s001.zip › cancers-768495_-Supplementary_Tables_.xlsx › Table_S2
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