Varaico: Literature-Extracted Genetic Variants

Gene:MLYCD
Variant:p.L14F
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MLYCD

NM_012213.3:p.L14F

Associated Papers

Two novel mutations in RNU4ATAC in two siblings with an atypical mild phenotype of microcephalic osteodysplastic primordial dwarfism type 1.

Krøigård AB et al.

Clinical Dysmorphology, 2016

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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."