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Pigment Cell and Melanoma Research, ISSN 1755-1471, 2019
Albinism, which is commonly inherited as an autosomal recessive trait, is characterized by a reduction or absence of melanin in the eyes, skin, and hair. To... 
BLOC-2 | next-generation sequencing | targeted resequencing | albinism | BLOC-3
Journal Article
New Phytologist, ISSN 0028-646X, 05/2018, Volume 218, Issue 3, pp. 1247 - 1259
Journal Article
Human Mutation, ISSN 1059-7794, 08/2016, Volume 37, Issue 8, pp. 812 - 819
Journal Article
International Journal of Molecular Medicine, ISSN 1107-3756, 09/2018, Volume 42, Issue 3, pp. 1603 - 1614
Journal Article
BMC Bioinformatics, ISSN 1471-2105, 12/2017, Volume 18, Issue 1, pp. 554 - 554
Journal Article
AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE, ISSN 1073-449X, 07/2019, Volume 200, Issue 2, pp. 199 - 208
Rationale: Several common and rare genetic variants have been associated with idiopathic pulmonary fibrosis, a progressive fibrotic condition that is localized... 
rare variants | MUC5B PROMOTER POLYMORPHISM | disease risk alleles | SUSCEPTIBILITY | LOCI | idiopathic pulmonary fibrosis | targeted resequencing | GENOME | genetic variants | RESPIRATORY SYSTEM | DISEASE | MUTATIONS | ASSOCIATION | EXPRESSION | CRITICAL CARE MEDICINE
Journal Article