Varaico: Literature-Extracted Genetic Variants

Gene:PDE6A
Variant:p.R652C
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PDE6A

NM_000440.3:p.R652C

Associated Papers

Germline mutations and developmental mosaicism underlying EGFR-mutant lung cancer.

Burr R et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

37808694 (PubMed )
Supplement: media-2.xlsx › Patient_3

Corrigendum to "comparative exome sequencing reveals novel candidate genes for retinitis pigmentosa" [EBioMedicine 56(2020)102792] DOI: https://doi.org/10.1016/j.ebiom.2020.102792.

Yi Z et al.

Ebiomedicine, 2022

35248995 (PubMed )
Supplement: mmc1.pdf

Comparative exome sequencing reveals novel candidate genes for retinitis pigmentosa.

Yi Z et al.

Ebiomedicine, 2020

32454406 (PubMed )
Supplement: mmc1.pdf

Germline Variants in Phosphodiesterase Genes and Genetic Predisposition to Pediatric Adrenocortical Tumors.

Pinto EM et al.

Cancers, 2020

32098292 (PubMed )
Supplement: cancers-12-00506-s001.zip › Table_S2.xlsx › Sheet1

Cronkhite-Canada syndrome complicated with three malignant tumors: a case report and whole exome sequencing analysis.

Liu S et al.

Chinese Medical Journal, 2019

31764169 (PubMed )
Supplement: cm9-132-3001-s001.xlsx › Supplementary_Table_1
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