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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KCTD7

Variant:p.G105Splc

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KCTD7

NM_153033.5:p.G105Splc

hg38:chr7:66633495 G>A

Associated Papers

Constitutional SAMD9L mutations cause familial myelodysplastic syndrome and transient monosomy 7.

Pastor VB et al.

Haematologica, 2018

29217778 (PubMed )

Supplement: 2017.180778.PASTOR_SUPPL.pdf

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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."