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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SMAD6

Variant:p.C486fs

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SMAD6

NM_005585.5:p.C486fs

hg38:chr15:66781500 TGC>N

Associated Papers

Clinical and genetic characteristics of a large international cohort of individuals with rare NR5A1/SF-1 variants of sex development.

Kouri C et al.

Ebiomedicine, 2024

38168586 (PubMed )

Supplement: mmc1.pdf

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