Varaico: Literature-Extracted Genetic Variants

Gene:GZMB
Variant:p.M225L
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GZMB

NM_004131.6:p.M225L

Associated Papers

Targeted sequencing of selected functional genes in patients with wild-type transthyretin amyloidosis.

Moreno-Gázquez I et al.

Bmc Research Notes, 2023

37784196 (PubMed )
Supplement: 13104_2023_6491_MOESM1_ESM.xlsx › Supplementary_Table_4

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1045.400

Risk of generalized vitiligo is associated with the common 55R-94A-247H variant haplotype of GZMB (encoding granzyme B).

Ferrara TM et al.

The Journal of Investigative Dermatology, 2013

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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."