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: 6306C>A; Asp2102Glu; rs568627877

PubMed Link: 34078906

Variant Present in the following documents:

• 41525_2021_203_MOESM2_ESM.xlsx, sheet 1

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A novel statistical method for interpreting the pathogenicity of rare variants.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Wang, Jun J; Liu, Hehe H; Bertrand, Renae Elaine RE; Sarrion-Perdigones, Alejandro A; Gonzalez, Yezabel Y; Venken, Koen J T KJT; Chen, Rui R

Publication Date: 2021-01

Variant appearance in text: ABCA4: D2102E

PubMed Link: 32884132

Variant Present in the following documents:

• NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 6

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Identification of the genetic determinants responsible for retinal degeneration in families of Mexican descent.

Ophthalmic Genetics

Villanueva, Adda A; Biswas, Pooja P; Kishaba, Kameron K; Suk, John J; Tadimeti, Keerti K; Raghavendra, Pongali B PB; Nadeau, Karine K; Lamontagne, Bruno B; Busque, Lambert L; Geoffroy, Steve S; Mongrain, Ian I; Asselin, Géraldine G; Provost, Sylvie S; Dubé, Marie-Pierre MP; Nudleman, Eric E; Ayyagari, Radha R

Publication Date: 2018

Variant appearance in text: ABCA4: 6306C>A; Asp2102Glu; rs568627877

PubMed Link: 28945494

Variant Present in the following documents:

• Main text

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Assessment of estimated retinal atrophy progression in Stargardt macular dystrophy using spectral-domain optical coherence tomography.

The British Journal Of Ophthalmology

Strauss, Rupert W RW; Muñoz, Beatriz B; Wolfson, Yulia Y; Sophie, Raafay R; Fletcher, Emily E; Bittencourt, Millena G MG; Scholl, Hendrik P N HP

Publication Date: 2016-07

Variant appearance in text: ABCA4: 6306C>A

PubMed Link: 26568636

Variant Present in the following documents:

• bjophthalmol-2015-307035-s1.pdf

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Analysis of the ABCA4 gene by next-generation sequencing.

Investigative Ophthalmology & Visual Science

Zernant, Jana J; Schubert, Carl C; Im, Kate M KM; Burke, Tomas T; Brown, Carolyn M CM; Fishman, Gerald A GA; Tsang, Stephen H SH; Gouras, Peter P; Dean, Michael M; Allikmets, Rando R

Publication Date: 2011-10-31

Variant appearance in text: ABCA4: 6306C>A

PubMed Link: 21911583

Variant Present in the following documents:

• Main text

View BVdb publication page