Varaico: Literature-Extracted Genetic Variants

Gene:ALMS1
Variant:p.L926P
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ALMS1

NM_001378454.1:p.L926P

Associated Papers

Whole Genome Sequencing Identifies Novel Compound Heterozygous Lysosomal Trafficking Regulator Gene Mutations Associated with Autosomal Recessive Chediak-Higashi Syndrome.

Jin Y et al.

Scientific Reports, 2017

28145517 (PubMed )
Supplement: srep41308-s1.pdf
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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."