Varaico: Literature-Extracted Genetic Variants

Gene:ERCC6
Variant:p.K345_V346insFs
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ERCC6

NM_000124.4:p.K345_V346insFs

Associated Papers

The Israeli national population program of genetic carrier screening for reproductive purposes. How should it be continued?

Zlotogora J

Israel Journal of Health Policy Research, 2019

31839005 (PubMed )
Supplement: 13584_2019_345_MOESM1_ESM.xlsx › Arabs_not_Negev_Bedouins_

The molecular basis of autosomal recessive diseases among the Arabs and Druze in Israel.

Zlotogora J

Human Genetics, 2010

Cockayne syndrome type II in a Druze isolate in Northern Israel in association with an insertion mutation in ERCC6.

Falik-Zaccai TC et al.

American Journal of Medical Genetics. Part A, 2008

[Clinical, biochemical and molecular characterization of rare genetic disorders, related to nucleotide excision repair (NER) system].

Falik-Zaccai T et al.

Harefuah, 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."