Varaico: Literature-Extracted Genetic Variants

Gene:SIX1
Variant:p.H91_Y92insFs
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SIX1

NM_005982.4:p.H91_Y92insFs

Associated Papers

Unexpected role of SIX1 variants in craniosynostosis: expanding the phenotype of SIX1-related disorders.

Calpena E et al.

Journal of Medical Genetics, 2022

33436522 (PubMed )
Supplement: jmedgenet-2020-107459supp001.pdf

Targeted Exome Sequencing Identifies PBX1 as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary Tract.

Heidet L et al.

Journal of the American Society of Nephrology : Jasn, 2017

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