Varaico: Literature-Extracted Genetic Variants

Gene:HYCC1
Variant:p.E138_P139Splc
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HYCC1

NM_032581.4:p.E138_P139Splc

Associated Papers

Hypomyelination and Congenital Cataract: Identification of a Novel likely pathogenic c.414+1G>A in FAM126A gene Variant.

Troncoso M et al.

Clinical Case Reports, 2021

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."