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Commonality amid diversity: Multi-study proteomic identification of conserved...

Fuller(Heidi R),Gillingwater(Thomas H),Wis... Neuromuscul Disord 0000-00-00

...COL6A3. Proteomic studies therefore represent a leading tool with which to dissect the molecular mechanisms of disease p...

The sensitivity of exome sequencing in identifying pathogenic mutations for L...

Reddy(Hemakumar M),Cho(Kyung-Ah),Lek(Monko... J Hum Genet 0000-00-00

...COL6A3, FLNC, LMNA, RYR1, SMCHD1 and VCP, recessive mutations in ANO5, CAPN3, GAA, LAMA2, SGCA and SGCG, and X-linked mu...

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