DOI: 10.1055/s-00000034

Klinische Pädiatrie

References

Ali MZ, Blatterer J, Khan MA. et al.
Identification of a novel protein truncating mutation p.Asp98* in XPC associated with xeroderma pigmentosum in a consanguineous Pakistani family.

Mol Genet Genomic Med 2020;
8: 1060

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