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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RPE

Variant:p.W79delFs

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RPE

NM_199229.3:p.W79delFs

hg38:chr2:210016005 TG>T

Associated Papers

Bi-allelic MCM10 variants associated with immune dysfunction and cardiomyopathy cause telomere shortening.

Baxley RM et al.

Nature Communications, 2021

33712616 (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."