Varaico: Literature-Extracted Genetic Variants

Gene:BOC
Variant:p.R370W
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BOC

NM_001378074.1:p.R370W

Associated Papers

Mutations disrupting neuritogenesis genes confer risk for cerebral palsy.

Jin SC et al.

Nature Genetics, 2020

32989326 (PubMed )
Supplement: 41588_2020_695_MOESM3_ESM.xlsx › Data_set_1

Identification of potential genetic risk factors for bipolar disorder by whole-exome sequencing.

Husson T et al.

Translational Psychiatry, 2018

30518751 (PubMed )
Supplement: 41398_2018_291_MOESM1_ESM.pdf

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 79.65
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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."