Varaico: Literature-Extracted Genetic Variants

Gene:EFHC2
Variant:p.R486S
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EFHC2

NM_025184.4:p.R486S

Associated Papers

Clinical exome sequencing findings in 1589 patients.

Gorukmez O et al.

American Journal of Medical Genetics. Part A, 2023

X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes.

Hu H et al.

Molecular Psychiatry, 2016

25644381 (PubMed )
Supplement: mp2014193x1.pdf

Challenges and opportunities in the investigation of unexplained intellectual disability using family-based whole-exome sequencing.

Helsmoortel C et al.

Clinical Genetics, 2015

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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."