Varaico: Literature-Extracted Genetic Variants

Gene:EFCAB6
Variant:p.S1315fs
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EFCAB6

NM_022785.4:p.S1315fs

Associated Papers

A 29 Mainland Chinese cohort of patients with Phelan-McDermid syndrome: genotype-phenotype correlations and the role of SHANK3 haploinsufficiency in the important phenotypes.

Xu N et al.

Orphanet Journal of Rare Diseases, 2020

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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."