Varaico: Literature-Extracted Genetic Variants

Gene:SAMD9
Variant:p.L641P
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SAMD9

NM_017654.4:p.L641P

Associated Papers

Structural Mechanisms of SAMD9 Autoinhibition and Pathogenic Dysregulation.

Mou Z et al.

Biorxiv : the Preprint Server for Biology, 2026

41676458 (PubMed )
Supplement: media-1.pdf

Emerging phenotypes linked to variants in SAMD9 and MIRAGE syndrome.

Suntharalingham JP et al.

Frontiers in Endocrinology, 2022

Somatic mosaic monosomy 7 and UPD7q in a child with MIRAGE syndrome caused by a novel SAMD9 mutation.

Csillag B et al.

Pediatric Blood & Cancer, 2019

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