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Literature for OMIM 616632: SEIZURES, CORTICAL BLINDNESS, AND MICROCEPHALY SYNDROME; SCBMS
Xenbase Articles:
( Denotes literature images)
Late-onset hearing loss case associated with a heterozygous truncating variant of DIAPH1., Kim BJ,Miyoshi T,Chaudhry T,Friedman TB,Choi BY,Ueyama T, Clin Genet. April 1, 2022; 101(4):1399-0004. |