Varaico: Literature-Extracted Genetic Variants

Gene:GPLD1
Variant:p.R713C
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GPLD1

NM_001503.4:p.R713C

Associated Papers

Genome-wide rare variant analysis for thousands of phenotypes in over 70,000 exomes from two cohorts.

Cirulli ET et al.

Nature Communications, 2020

31992710 (PubMed )
Supplement: 41467_2020_14288_MOESM1_ESM.pdf

Accumulation of sequence variants in genes of Wnt signaling and focal adhesion pathways in human corneas further explains their involvement in keratoconus.

Karolak JA et al.

Peerj, 2020

32328353 (PubMed )
Supplement: peerj-08-8982-s002.xls › ES_Variants_
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