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A Survey of Multigenic Protein-Altering Variant Frequency in Familial Exudative Vitreo-Retinopathy (FEVR) Patients by Targeted Sequencing of Seven FEVR-Linked Genes.

Genes - 11 Mar 2022

Cicerone Amanda Petrelli, Dailey Wendy, Sun Michael, Santos Andrew, Jeong Daeun, Jones Lance, Koustas Konstaninos, Drekh Mary, Schmitz Keaton, Haque Naomi, Felisky Jennifer A, Guzman Alvaro E, Mellert Kendra, Trese Michael T, Capone Antonio, Drenser Kimberly A, Mitton Kenneth P

Abstract excerpt

While Inherited Retinal Diseases (IRDs) are typically considered rare diseases, Familial Exudative Vitreo-Retinopathy (FEVR) and Norrie Disease (ND) are more rare than retinitis pigmentosa. We wanted to determine if multigenic protein-altering variants are common in FEVR subjects within a set of FEVR-related genes. The potential occurrence of protein-altering variants in two different genes has been documented in...

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Identifiers

PMID: 35328049
DOI: 10.3390/genes13030495
PMCID: PMC8953269

Genes

FZD4
LRP5
ZNF408
CTNNB1
KIF11
NDP
TSPAN12

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A Survey of Multigenic Protein-Altering Variant Frequency in Familial Exudative Vitreo-Retinopathy (FEVR) Patients by Targeted Sequencing of Seven FEVR-Linked Genes.PMID 35328049Read ↗

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