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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RTEL1

Variant:p.C1242delFs

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RTEL1

NM_001283009.2:p.C1242delFs

hg38:chr20:63695551 CTG>C

Associated Papers

Diagnostics of rare disorders: whole-exome sequencing deciphering locus heterogeneity in telomere biology disorders.

Trotta L et al.

Orphanet Journal of Rare Diseases, 2018

30115091 (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."