Publications:

The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.

Npj Genomic Medicine

Xiao, Qingyang Q; Lauschke, Volker M VM

Publication Date: 2021-06-02

Variant appearance in text: ABCA4: 2900C>G; Ala967Gly; rs1291080436

PubMed Link: 34078906

Variant Present in the following documents:

• 41525_2021_203_MOESM2_ESM.xlsx, sheet 1

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Genetic characterization of Stargardt clinical phenotype in South Indian patients using sanger and targeted sequencing.

Eye And Vision (London, England)

Raj, Rajendran Kadarkarai RK; Dhoble, Pankaja P; Anjanamurthy, Rupa R; Chermakani, Prakash P; Kumaran, Manojkumar M; Devarajan, Bharanidharan B; Sundaresan, Periasamy P

Publication Date: 2020

Variant appearance in text: rs1291080436

PubMed Link: 31934596

Variant Present in the following documents:

• Main text
• 40662_2019_Article_168.pdf

View BVdb publication page