Varaico: Literature-Extracted Genetic Variants

Gene:SYTL2
Variant:p.R21W
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SYTL2

NM_206927.4:p.R21W

Associated Papers

TrkA mediates effect of novel KIDINS220 mutation in human brain ventriculomegaly.

Jacquemin V et al.

Human Molecular Genetics, 2021

Whole exome sequencing identified mutations causing hearing loss in five consanguineous Pakistani families.

Zhou Y et al.

Bmc Medical Genetics, 2020

32682410 (PubMed )
Supplement: 12881_2020_1087_MOESM1_ESM.xlsx › HL4

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1464.524
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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."