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Severe short rib thoracic dysplasia-16 associated with the c424C>T pathogenic variant in the Intra Flagellar Transport 52 (IFT52) gene

Year: 2025

Type: article

Abstract: No abstract available

Source: Sri Lanka Journal of Child Health

DOI: 10.4038/sljch.v54i1.10998

Authors: Bimsara Yohan Abeyrathna, Deepthi C. De Silva, Sandya Doluweera

Language: English

Topic: Genetic and Kidney Cyst Diseases

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: diamond

OpenAlex ID: W4408218166

FWCI:

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