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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ANKLE1

Variant:p.Y215delFs

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ANKLE1

NM_152363.6:p.Y215delFs

hg38:chr19:17283406 TTA>T

Associated Papers

Constitutional mutations in RTEL1 cause severe dyskeratosis congenita.

Walne AJ et al.

American Journal of Human Genetics, 2013

23453664 (PubMed )

Supplement: mmc1.pdf

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