Varaico: Literature-Extracted Genetic Variants

Gene:THBD
Variant:p.R101L
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THBD

NM_000361.3:p.R101L

Associated Papers

Re-analysis of whole-exome sequencing data uncovers novel diagnostic variants and improves molecular diagnostic yields for sudden death and idiopathic diseases.

Salfati EL et al.

Genome Medicine, 2019

31847883 (PubMed )
Supplement: 13073_2019_702_MOESM1_ESM.xlsx › Table_S3B

Molecular Autopsy for Sudden Death in the Young: Is Data Aggregation the Key?

Rueda M et al.

Frontiers in Cardiovascular Medicine, 2017

Molecular Autopsy for Sudden Unexpected Death.

Torkamani A et al.

Jama, 2016

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