Varaico: Literature-Extracted Genetic Variants

Gene:MSRB2
Variant:p.E46G
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MSRB2

NM_012228.4:p.E46G

Associated Papers

Cathepsin B p.Gly284Val Variant in Parkinson's Disease Pathogenesis.

Milanowski LM et al.

International Journal of Molecular Sciences, 2022

35806091 (PubMed )
Supplement: ijms-23-07086-s001.zip › Supplementary_Table_S1.xlsx › Heterozygotes

TBX1 mutation identified by exome sequencing in a Japanese family with 22q11.2 deletion syndrome-like craniofacial features and hypocalcemia.

Ogata T et al.

Plos One, 2014

24637876 (PubMed )
Supplement: pone.0091598.s006.pdf
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