Varaico: Literature-Extracted Genetic Variants

Gene:BLOC1S3
Variant:p.S34*
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BLOC1S3

NM_212550.5:p.S34*

Associated Papers

A homozygous stop codon in HORMAD2 in a patient with recurrent digynic triploid miscarriage.

Liang M et al.

Molecular Genetics & Genomic Medicine, 2024

38400599 (PubMed )
Supplement: MGG3-12-e2402-s001.pdf

Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway.

Di Fruscio G et al.

Autophagy, 2015

26075876 (PubMed )
Supplement: kaup-11-06-1043077-s001.zip › 1043077_supplemental_files › TABLE_S6.xlsx › results
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