Varaico: Literature-Extracted Genetic Variants

Gene:PRDM16
Variant:p.R525Q
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PRDM16

NM_022114.4:p.R525Q

Associated Papers

Multi-site validation of a functional assay to adjudicate SCN5A Brugada Syndrome-associated variants.

Ma JG et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

38196587 (PubMed )
Supplement: media-2.xlsx › Table_S10._Incidental_Variant

Genetic factors contributing to autism spectrum disorder in Williams-Beuren syndrome.

Codina-Sola M et al.

Journal of Medical Genetics, 2019

31413120 (PubMed )
Supplement: jmedgenet-2019-106080supp001.pdf
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