Varaico: Literature-Extracted Genetic Variants

Gene:LAMA1
Variant:p.K2086T
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LAMA1

NM_005559.4:p.K2086T

Associated Papers

Mutations disrupting neuritogenesis genes confer risk for cerebral palsy.

Jin SC et al.

Nature Genetics, 2020

32989326 (PubMed )
Supplement: 41588_2020_695_MOESM3_ESM.xlsx › Data_set_1

iPSC modeling of severe aplastic anemia reveals impaired differentiation and telomere shortening in blood progenitors.

Melguizo-Sanchis D et al.

Cell Death & Disease, 2018

29374141 (PubMed )
Supplement: 41419_2017_141_MOESM8_ESM.xlsx › SAA3_Deleterious_Hits
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