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Compendium of Clinical Variant Classification for 2,246 Unique ABCA4 Variants to Clarify Variant Pathogenicity in Stargardt Disease Using a Modified ACMG/AMP …

SS Cornelis, M Bauwens, L Haer-Wigman… - Human …, 2023 - Wiley Online Library
Biallelic variants in ABCA4 cause Stargardt disease (STGD1), the most frequent heritable
macular disease. Determination of the pathogenicity of variants in ABCA4 proves to be …
被引用次数：2 相关文章

Compendium of Clinical Variant Classification for 2,246 Unique ABCA4 Variants to Clarify Variant Pathogenicity in Stargardt Disease Using a Modified ACMG/AMP …

SS Cornelis, M Bauwens, L Haer-Wigman… - Human …, 2023 - search.proquest.com
Biallelic variants in ABCA4 cause Stargardt disease (STGD1), the most frequent heritable
macular disease. Determination of the pathogenicity of variants in ABCA4 proves to be …
[PDF] ugent.be

[PDF][PDF] Compendium of Clinical Variant Classification for 2,246 Unique ABCA4 Variants to Clarify Variant Pathogenicity in Stargardt Disease Using a Modified ACMG …

S Cornelis, M Bauwens, L Haer-Wigman… - HUMAN …, 2023 - biblio.ugent.be
Biallelic variants in ABCA4 cause Stargardt disease (STGD1), the most frequent heritable
macular disease. Determination of the pathogenicity of variants in ABCA4 proves to be …

[引用][C] Compendium of Clinical Variant Classification for 2,246 Unique< i> ABCA4</i> Variants to Clarify Variant Pathogenicity in Stargardt Disease Using a Modified …

SS Cornelis, M Bauwens, L Haer-Wigman… - lilloa.univ-lille.fr
Compendium of Clinical Variant Classification for 2,246 Unique <i>ABCA4</i> Variants to
Clarify Variant Pathogenicity in Stargardt Disease Using a Modified ACMG/AMP Framework …
[PDF] ru.nl

[PDF][PDF] Compendium of Clinical Variant Classification for 2,246 Unique ABCA4 Variants to Clarify Variant Pathogenicity in Stargardt Disease Using a Modified ACMG …

SS Cornelis, M Bauwens, L Haer-Wigman, MD Bruyne… - 2023 - repository.ubn.ru.nl
Biallelic variants in ABCA4 cause Stargardt disease (STGD1), the most frequent heritable
macular disease. Determination of the pathogenicity of variants in ABCA4 proves to be …

[引用][C] Compendium of Clinical Variant Classification for 2,246 Unique ABCA4 Variants to Clarify Variant Pathogenicity in Stargardt Disease Using a Modified ACMG …

SS Cornelis, M Bauwens, L Haer-Wigman… - Human Mutation - Hindawi