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Your search keyword '"Splice site variant"' showing total 6 results

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6 results on '"Splice site variant"'

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1. RET splice site variants in medullary thyroid carcinoma.

2. Novel variants in the CLCN4 gene associated with syndromic X-linked intellectual disability.

3. A GATA3 gene mutation that causes incorrect splicing and HDR syndrome: a case study and literature review.

4. Case report: KPTN gene-related syndrome associated with a spectrum of neurodevelopmental anomalies including severe epilepsy.

5. Identification of Four Novel COL4A5 Variants and Detection of Splicing Abnormalities in Three Chinese X-Linked Alport Syndrome Families.

6. Deleterious Impact of a Novel CFH Splice Site Variant in Atypical Hemolytic Uremic Syndrome.

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