Associated Papers
Clinical Phenotype Spectrum in Two Large Chinese Families With Rippling Muscle Disease Caused by CAV-3 c.80G>A.
Shen Y et al.
Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2025
Donor single nucleotide polymorphism in ACAT1 affects the incidence of graft-versus-host disease after bone marrow transplantation.
Kamoshita S et al.
International Journal of Hematology, 2020
TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants.
Dines JN et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
30245509 (PubMed )
Supplement: 41436_2018_137_MOESM1_ESM.docx
Inhibin alpha-subunit (INHA) expression in adrenocortical cancer is linked to genetic and epigenetic INHA promoter variation.
Hofland J et al.
Plos One, 2014
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