Varaico: Literature-Extracted Genetic Variants

Gene:DDRGK1
Variant:p.E136K
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DDRGK1

NM_023935.3:p.E136K

Associated Papers

A missense mutation in DDRGK1 gene associated to Shohat-type spondyloepimetaphyseal dysplasia: Two case reports and a review of literature.

Franceschi R et al.

American Journal of Medical Genetics. Part A, 2022

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