Varaico: Literature-Extracted Genetic Variants

Gene:SLC25A14
Variant:p.I82L
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SLC25A14

NM_001282195.2:p.I82L

Associated Papers

A De Novo Noncoding RARB Variant Associated with Complex Microphthalmia Alters a Putative Regulatory Element.

Replogle MR et al.

Human Mutation, 2024

39450403 (PubMed )
Supplement: 6619280.f1.pdf
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