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LRRK2 Loss‐of‐Function Variants in Patients with Rare Diseases: No Evidence for a Phenotypic Impact
Author(s) -
Beetz Christian,
Westenberger Ana,
AlAli Ruslan,
Ameziane Najim,
Alhashmi Nadia,
Boustany RoseMary,
Al Mutairi Fuad,
Alfadhel Majid,
AlHassnan Zuhair,
AlSayed Moenaldeen,
Kandaswamy Krishna K.,
Paknia Omid,
Skrahina Volha,
Rolfs Arndt,
Bauer Peter
Publication year - 2021
Publication title -
movement disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.352
H-Index - 198
eISSN - 1531-8257
pISSN - 0885-3185
DOI - 10.1002/mds.28452
Subject(s) - lrrk2 , exome sequencing , missense mutation , loss function , phenotype , genetics , frameshift mutation , disease , biology , nonsense , gene , medicine , bioinformatics , mutation