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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MBD5

Variant:p.P243fs

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MBD5

NM_001378120.1:p.P243fs

hg38:chr2:148468670 CCA>N

Associated Papers

Germline mosaicism in a family with MBD5 haploinsufficiency.

Bhatia M et al.

Cold Spring Harbor Molecular Case Studies, 2022

36396431 (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."