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Novel and known variants in GJA3 and LIM2 in congenital cataract families from North India.

BMC genomics - 4 Jan 2024

Goyal Shiwali, Singh Ravijit, Singh Jai Rup, Vanita Vanita

Abstract excerpt

BACKGROUND: To identify the underlying genetic defects in autosomal dominant (ADCC) and autosomal recessive (ARCC) congenital cataract families from North India. METHODS: Detailed family histories were collected, pedigrees drawn followed by slit-lamp examination and lens photography. Mutation screening was performed using Sanger sequencing in the known candidate genes for crystallins, connexins, and membrane...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 38178039
DOI: 10.1186/s12864-023-09880-7
PMCID: PMC10765620

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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