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修正"对2,246个独特的ABCA4变体的临床变体分类汇编,以使用修改的ACMG/AMP框架澄清Stargardt疾病的变体致病性"

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    这项研究纠正了先前发表的一篇文章的DOI. 校正确保了科学研究的准确引用和检索,以提高可访问性.

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    The human genome is over 99.9% identical between individuals, yet genetic differences exist at millions of bases. The human genome contains approximately 3 million variant positions per individual, many of which are heterozygous, contributing to genetic diversity and individual traits. Genetic variations include single-nucleotide polymorphisms (SNPs), insertions, deletions, and copy number variations (CNVs).SNPs, the most common variation, involve single-base changes in DNA. These can be...