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Whole genome sequencing reveals biallelic PLA2G6 mutations in siblings with cerebellar atrophy and cap myopathy
Author(s) -
McMillan Hugh J.,
Marshall Aren E.,
Venkateswaran Sunita,
Hartley Taila,
WarmanChardon Jodi,
Ramani Arun K.,
Marshall Christian R.,
Michaud Jean,
Boycott Kym M.,
Dyment David A.,
Kernohan Kristin D.
Publication year - 2021
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/cge.13935
Subject(s) - genetics , myopathy , biology , atrophy , mutation , missense mutation , gene