Varaico: Literature-Extracted Genetic Variants

Gene:RECQL4
Variant:p.R962Splc
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RECQL4

NM_004260.4:p.R962Splc

Associated Papers

Molecular Mechanisms of the RECQ4 Pathogenic Mutations.

Xu X et al.

Frontiers in Molecular Biosciences, 2021

Successful umbilical cord blood stem cell transplantation in a patient with Rothmund-Thomson syndrome and combined immunodeficiency.

Broom MA et al.

Clinical Genetics, 2006

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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."