Varaico: Literature-Extracted Genetic Variants

Gene:JMJD6
Variant:p.R314Splc
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JMJD6

NM_015167.3:p.R314Splc

Associated Papers

Case report: A novel intronic JMJD6 likely pathogenic variant (c.941+75G > T) associated with congenital eyelid coloboma in one of the identical twin sisters.

Li X et al.

Frontiers in Genetics, 2025

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