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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SLC38A2

Variant:p.G52delFs

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SLC38A2

NM_001307936.2:p.G52delFs

hg38:chr12:46367100 AT>A

Associated Papers

ARID2, a rare cause of Coffin-Siris syndrome: A novel microdeletion at 12q12q13.11 causing severe short stature and literature review.

Xia D et al.

American Journal of Medical Genetics. Part A, 2023

36756859 (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."