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Novel homozygous nonsense variant in MLPH causing Griscelli syndrome type 3 in a consanguineous Pakistani family.
Novel homozygous nonsense variant in MLPH causing Griscelli syndrome type 3 in a consanguineous Pakistani family.
2020
Naveed Wasif
Asia Parveen
Hina Bashir
Fareeha Ashraf
Ehtasham Ali
Kashif Raza Khan
Amina Arif
Keywords:
Griscelli syndrome type 3
Medicine
Genetics
Nonsense
Correction
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