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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TP53BP1

Variant:p.M721_E724del4

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TP53BP1

NM_001141980.3:p.M721_E724del4

hg38:chr15:43456434 GTTTCAACTTCCA>G

Associated Papers

Biallelic variants in YRDC cause a developmental disorder with progeroid features.

Schmidt J et al.

Human Genetics, 2021

34545459 (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."