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Article

Subclinical parents assist in the detection of genetic variants in keratoconus by trio-based whole-exome sequencing.

Molecular vision - 1 Jan 2025

Li Xingyong, Yao Yinghao, Xing Shilai, Ma Siwen, Pang Shuaiyue, Zhou Yang, Chen Shihao

Abstract excerpt

Purpose: To explore the genetic variants of 14 keratoconus trios containing subclinical parents. Methods: Trio-based whole-exome sequencing was performed in 14 keratoconus trios containing subclinical parents. The variants identified in candidate genes of keratoconus were analyzed by multiple bioinformatics tools. Results: We identified 12 variants in 10 candidate genes of keratoconus (COL5A1, TGFBI, CAST, MPDZ,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 40098727
PMCID: PMC11913067

Genes

CAST
COL1A1
COL5A1
ERMP1
MAP3K19
MPDZ
MYOF
TGFBI
WNT10A
WNT16

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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