Associated Papers
Variability of retinopathy consequent upon novel mutations in LAMA1.
Schiff ER et al.
Ophthalmic Genetics, 2022
The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results.
Baldridge D et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
A Novel Mutation in Isoform 3 of the Plasma Membrane Ca2+ Pump Impairs Cellular Ca2+ Homeostasis in a Patient with Cerebellar Ataxia and Laminin Subunit 1α Mutations.
Calì T et al.
The Journal of Biological Chemistry, 2015
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