Identification of a premature stop codon mutation in the PHGDH gene in severe Neu‐Laxova syndrome—evidence for phenotypic variability

Publisher: John Wiley & Sons Inc

E-ISSN: 1552-4833|167|6|1323-1329

ISSN: 1552-4825

Source: American Journal Of Medical Genetics Part A, Vol.167, Iss.6, 2015-06, pp. : 1323-1329

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