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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ALG12

Variant:p.L390V

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ALG12

NM_024105.4:p.L390V

hg38:chr22:49904249 G>C

Associated Papers

Genotype-phenotype correlation in Phelan-McDermid syndrome: A comprehensive review of chromosome 22q13 deleted genes.

Ricciardello A et al.

American Journal of Medical Genetics. Part A, 2021

33949759 (PubMed )

Supplement: AJMG-185-2211-s002.docx

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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."