Varaico: Literature-Extracted Genetic Variants

Gene:EXD3
Variant:p.R810Q
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EXD3

NM_017820.5:p.R810Q

Associated Papers

Exploring multi-omics and clinical characteristics linked to accelerated biological aging in Asian women of reproductive age: insights from the S-PRESTO study.

Chen L et al.

Genome Medicine, 2024

39516835 (PubMed )
Supplement: 13073_2024_1403_MOESM3_ESM.xlsx › Table_S4B

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.s007.pdf
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