Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH3
Variant:p.Q231delFs
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NOTCH3

NM_000435.3:p.Q231delFs

Associated Papers

Confirmation of BRD4 haploinsufficiency role in Cornelia de Lange-like phenotype and delineation of a 19p13.12p13.11 gene contiguous syndrome.

Alesi V et al.

Annals of Human Genetics, 2019

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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."