Varaico: Literature-Extracted Genetic Variants

Gene:CHMP1A
Variant:p.E50K
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CHMP1A

NM_002768.5:p.E50K

Associated Papers

Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.

Zhang Y et al.

Molecular Neurobiology, 2021

33860439 (PubMed )
Supplement: 12035_2021_2377_MOESM8_ESM.xlsx › Validated_mutations

Mapping of a gene causing brittle cornea syndrome in Tunisian jews to 16q24.

Abu A et al.

Investigative Ophthalmology & Visual Science, 2006

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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."