Varaico: Literature-Extracted Genetic Variants

Gene:XRCC4
Variant:p.D254fs
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XRCC4

NM_003401.5:p.D254fs

Associated Papers

Functional analysis of XRCC4 mutations in reported microcephaly and growth defect patients in terms of radiosensitivity.

Asa ADDC et al.

Journal of Radiation Research, 2021

Mutations in XRCC4 cause primordial dwarfism without causing immunodeficiency.

Saito S et al.

Journal of Human Genetics, 2016

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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."