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Case 33: microduplication of chromosome 15, not found in the parents.
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创建时间：
2013-10-24
相关数据集
Overview of 9 disorders tested with their corresponding chromosome number, the mutation, the effect, the inheritance, the breeds where the mutation has been reported before and the animal model.
CFA = chromosome number; AR = autosomal recessive, XR = X-linked recessive, MP = multifactorial; MS = missense, SP = splice variant, FS = frame shift, ES = exon skipping, SINE = short interspersed ele
Figshare2015-12-02 更新60
Detection rate and false positive rate for microdeletion and microduplication of artificially affected samples.
Detection rate and false positive rate for microdeletion and microduplication of artificially affected samples.
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Solution structure of the dyskeratosis congenita mutant P2b hairpin from human telomerase RNA
Solution structure of the dyskeratosis congenita mutant P2b hairpin from human telomerase RNA Descriptor: DKC mutant P2b telomerase RNA Authors: Theimer, C.A, Finger, L.D, Feigon, J. Deposit date: 200
Protein Data Bank Japan2024-05-22 更新10
Supplementary Material for: Microhomology-Mediated Microduplication in the Y Chromosomal Azoospermia Factor a Region in a Male with Mild Asthenozoospermia
Y chromosomal azoospermia factor (AZF) regions AZFa, AZFb and AZFc represent hotspots for copy number variations (CNVs) in the human genome; yet the number of reports of AZFa-linked duplications remai
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DataSheet1_Positive cfDNA screening results for 22q11.2 deletion syndrome—Clinical and laboratory considerations.pdf
Introduction: Non-invasive prenatal screening (NIPS) via cell-free DNA (cfDNA) screens for fetal chromosome disorders using maternal plasma, including 22q11.2 deletion syndrome (22q11.2DS). While it i
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