Varaico: Literature-Extracted Genetic Variants

Gene:EXOC5
Variant:p.V692I
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EXOC5

NM_006544.4:p.V692I

Associated Papers

Biallelic variants in MESD, which encodes a WNT-signaling-related protein, in four new families with recessively inherited osteogenesis imperfecta.

Tran TT et al.

Hgg Advances, 2021

35047842 (PubMed )
Supplement: mmc1.pdf
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