Varaico: Literature-Extracted Genetic Variants

Gene:KANSL1
Variant:p.L1042fs
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KANSL1

NM_015443.4:p.L1042fs

Associated Papers

Novel Insights into the Enigmatic Genetics of Male Breast Cancer in China.

Lang GT et al.

Pathophysiology : the Official Journal of the International Society for Pathophysiology, 2026

41718387 (PubMed )
Supplement: pathophysiology-33-00009-s001.zip › Supplementary_Table_1.pdf

The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant.

Koolen DA et al.

European Journal of Human Genetics : Ejhg, 2016

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