Varaico: Literature-Extracted Genetic Variants

Gene:DHX37
Variant:p.S169L
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DHX37

NM_032656.4:p.S169L

Associated Papers

Identification of a Novel Variant in Myelin Regulatory Growth Factor by Next-Generation Sequencing Led to the Detection of a Clinically Inapparent Congenital Heart Defect in a Patient with a 46,XY Disorder of Sex Development.

Correa Brito L et al.

Journal of Personalized Medicine, 2023

37511771 (PubMed )
Supplement: jpm-13-01158-s001.zip › Supplementary_Table_S1_-_Classification_of_additional_prioritised_variants.xlsx › ACMG-AMP_criteria
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