Varaico: Literature-Extracted Genetic Variants

Gene:NCOA7
Variant:p.E748_I749Splc
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NCOA7

NM_181782.5:p.E748_I749Splc

Associated Papers

A mutation affecting laminin alpha 5 polymerisation gives rise to a syndromic developmental disorder.

Jones LK et al.

Development (cambridge, England), 2020

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 985.382
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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."