Varaico: Literature-Extracted Genetic Variants

Gene:BCS1L
Variant:p.L385F
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BCS1L

NM_001079866.2:p.L385F

Associated Papers

Clinical and genetic characteristics and prenatal diagnosis of patients presented GDD/ID with rare monogenic causes.

Lin L 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."