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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KCTD7

Variant:p.I199fs

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KCTD7

NM_153033.5:p.I199fs

hg38:chr7:66638957 ATC>N

Associated Papers

Progressive myoclonus epilepsy and ceroidolipofuscinosis 14: The multifaceted phenotypic spectrum of KCTD7-related disorders.

Mastrangelo M et al.

European Journal of Medical Genetics, 2019

30500434 (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."