Varaico: Literature-Extracted Genetic Variants

Gene:GCDH
Variant:p.R257P
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GCDH

NM_000159.4:p.R257P

Associated Papers

Compound heterozygous mutations in TGFBI cause a severe phenotype of granular corneal dystrophy type 2.

Jun I et al.

Scientific Reports, 2021

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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."