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Case Studies
RDDC RNA Splicer & TCF4
Case Studies
By the RDDC Project Team
RDDC Tool Decodes TCF4 3'UTR Variant in PTHS
October 23, 2025
RDDC RNA Splicer
DCT Splicing Variants
Oculo-Cutaneous Albinism 8
Pigment Deficiency
Case Studies
By the RDDC Project Team
Case Study: RDDC RNA Splicer Accurately Predicts DCT Splicing Variants in Oculo-Cutaneous Albinism 8
October 20, 2025
Case Studies
MARVELD2 Splicing Variant
Case Studies
By the RDDC Project Team
A Deep Dive into a MARVELD2 Splicing Variant in Hereditary Hearing Loss with the RDDC Tool
October 20, 2025
RDDC RNA Splicer
CPLANE1 Missense Variants
Joubert Syndrome
Ciliopathy
Case Studies
By the RDDC Project Team
Case Study: RDDC RNA Splicer Accurately Predicts CPLANE1 Missense Variants in Joubert Syndrome
October 19, 2025
RDDC RNA Splicer
COL4A5 Intronic Variants
X-Linked Alport Syndrome
Kidney Disease
Case Studies
By the RDDC Project Team
Case Study: RDDC RNA Splicer Accurately Predicts COL4A5 Intronic Variants in X-Linked Alport Syndrome
October 18, 2025
RDDC RNA Splicer
LHCGR Splicing Variants
46
XY DSD
Disorders of Sex Development
Case Studies
By the RDDC Project Team
Case Study: RDDC RNA Splicer Accurately Predicts LHCGR Splicing Variants in 46,XY DSD
October 17, 2025
RDDC RNA Splicer
SMN1 Splicing Variants
SMA
Spinal Muscular Atrophy
Case Studies
By the RDDC Project Team
Case Study: RDDC RNA Splicer Accurately Predicts SMN1 Splicing Variants in SMA
October 16, 2025
RDDC RNA Splicer
Prenatal Arthrogryposis
Splicing Variants
Prenatal Diagnosis
Case Studies
By the RDDC Project Team
Case Study: RDDC RNA Splicer Accurately Predicts Prenatal Arthrogryposis Splicing Variants
October 15, 2025
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