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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SAMD9

Variant:p.K1024E

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SAMD9

NM_017654.4:p.K1024E

hg38:chr7:93103028 T>C

Associated Papers

MIRAGE syndrome in a 10-year-old girl with a novel Lys1024Glu missense variant in SAMD9.

Cinleti T et al.

Clinical Dysmorphology, 2023

37195360 (PubMed )

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