Varaico: Literature-Extracted Genetic Variants

Gene:PLD4
Variant:p.C313_Q315delFs
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PLD4

NM_138790.5:p.C313_Q315delFs

Associated Papers

Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity.

Saleheen D et al.

Nature, 2017

28406212 (PubMed )
Supplement: NIHMS857566-supplement-Suppl__Table_1.xlsx › Supplementary_Table_1

Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.

Carss KJ et al.

American Journal of Human Genetics, 2017

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