Associated Papers
Clinical variants paired with phenotype: A rich resource for brain gene curation.
Chopra M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024
38059438 (PubMed )
Supplement: NIHMS1951004-supplement-1.xlsx › All_Variants
The spectrum of neurological presentation in individuals affected by TBL1XR1 gene defects.
Nagy A et al.
Orphanet Journal of Rare Diseases, 2024
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