Varaico: Literature-Extracted Genetic Variants

Gene:SETD5
Variant:p.Y809*
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SETD5

NM_001080517.3:p.Y809*

Associated Papers

The pleiotropy associated with de novo variants in CHD4, CNOT3, and SETD5 extends to moyamoya angiopathy.

Pinard A et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

Clinically-relevant postzygotic mosaicism in parents and children with developmental disorders in trio exome sequencing data.

Wright CF et al.

Nature Communications, 2019

31278258 (PubMed )
Supplement: 41467_2019_11059_MOESM3_ESM.xlsx › Supplementary_Data1
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