Varaico: Literature-Extracted Genetic Variants

Gene:ERCC5
Variant:p.Q757*
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ERCC5

NM_000123.4:p.Q757*

Associated Papers

Prenatal findings of cataract and arthrogryposis: recurrence of cerebro-oculo-facio-skeletal syndrome and review of differential diagnosis.

Sirchia F et al.

Bmc Medical Genomics, 2021

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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."