Novel frameshift variant (c.409dupG) in SLC25A38 is a common cause of congenital sideroblastic anaemia in the Indian subcontinent.
Niveditha RavindraRekha AthiyarathEswari SSumithra SUday KulkarniFouzia N AAnu KorulaRamachandran V ShajiBiju GeorgeEunice Sindhuvi EdisonPublished in: Journal of clinical pathology (2020)
This is the largest series of sideroblastic anaemia cases with molecular characterisation from the Indian subcontinent.
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