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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MBD5

Variant:p.N792S

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MBD5

NM_001378120.1:p.N792S

hg38:chr2:148470318 A>G

Associated Papers

Genetic Disorders Underlying Polyhydramnios and Congenital Hypotonia: Three Case Reports and a Review of the Literature.

Dermitzaki N et al.

Cureus, 2023

38205489 (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."