Novel variant c.1838A>G, p.(Gln613Arg) in NALCNcauses camptodactyly and cognitive delay.
CLINICAL DYSMORPHOLOGY(2022)
摘要
Singh, Parshw; Agrawal, Neha; Maurya, Rajesh Kumar; Moirangthem, Amita Author Information
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nalcncauses
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