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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RECQL4

Variant:p.Q757fs

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RECQL4

NM_004260.4:p.Q757fs

hg38:chr8:144513412 CTG>N

Associated Papers

Rothmund-Thomson Syndrome-Like RECQL4 Truncating Mutations Cause a Haploinsufficient Low-Bone-Mass Phenotype in Mice.

Castillo-Tandazo W et al.

Molecular and Cellular Biology, 2021

33361189 (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."