Varaico: Literature-Extracted Genetic Variants

Gene:HERC6
Variant:p.Q364_D365Splc
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HERC6

NM_017912.4:p.Q364_D365Splc

Associated Papers

A systematic assessment of the impact of rare canonical splice site variants on splicing using functional and in silico methods.

Oh RY et al.

Hgg Advances, 2024

38659227 (PubMed )
Supplement: mmc2.xlsx › Table_S2

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1843.647
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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."