Varaico: Literature-Extracted Genetic Variants

Gene:TGFBR1
Variant:p.D400V
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TGFBR1

NM_004612.4:p.D400V

Associated Papers

Loeys-Dietz and Shprintzen-Goldberg syndromes: analysis of TGF-β-opathies with craniofacial manifestations using an innovative multimodality method.

Almpani K et al.

Journal of Medical Genetics, 2022

34916229 (PubMed )
Supplement: jmedgenet-2021-107695supp001.pdf
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