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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MLYCD

Variant:p.S327N

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MLYCD

NM_012213.3:p.S327N

hg38:chr16:83914987 G>A

Associated Papers

Second reported individual with a partial STAG2 deletion: middle interhemispheric variant holoprosencephaly in STAG2-related cohesinopathy.

Cratsenberg DM et al.

Clinical Dysmorphology, 2021

33758131 (PubMed )

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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."