Varaico: Literature-Extracted Genetic Variants

Gene:BHLHA9
Variant:p.R113H
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BHLHA9

NM_001164405.2:p.R113H

Associated Papers

Multi-omics analysis identifies osteosarcoma subtypes with distinct prognosis indicating stratified treatment.

Jiang Y et al.

Nature Communications, 2022

36418292 (PubMed )
Supplement: 41467_2022_34689_MOESM4_ESM.zip › Supplementary_Data › Supplementary_Data_5.xlsx › Sheet1

Mutations affecting the BHLHA9 DNA-binding domain cause MSSD, mesoaxial synostotic syndactyly with phalangeal reduction, Malik-Percin type.

Malik S et al.

American Journal of Human Genetics, 2014

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