Varaico: Literature-Extracted Genetic Variants

Gene:SRCAP
Variant:p.E2434insFs
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SRCAP

NM_006662.3:p.E2434insFs

Associated Papers

Two iPSC lines with a heterozygous frameshift mutation in the floating-harbour syndrome locus of the SRCAP gene.

Rhode J et al.

Stem Cell Research, 2025

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